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A study of the distribution of the gene product of the Huntington's disease (HD) gene has found that it is expressed throughout human and rat brain regions, suggesting that the regional specificity of neuropathology in Huntington's is not accounted for by the expression of the gene itself, Nature Genetics 5 (1993), 259-65; Nature 366 (1993), 90. A special issue of JMG 30 (1993), 975-1043 is on HD. The instability in the gene is in the gametes but not in the body, somatic, cells. The HD gene has 67 exons, and the putative protein huntingtin is 348kDa, a very big protein.
A comparison of the genetic mutation in Alzheimer's and the age of onset is AJMG 48 (1994), 129-30; see also Science 262 (1993), 1210-1; Scientific American (Nov 1993), 13. On the role of the apoE4 allele, Lancet 342 (1993), 1308-10. General comments on behavioural genetics are in Science 262 (1993), 578-80; 651; 674-6; Scientific American (Nov 1993), 5, 89-90; JAMA 270 (1993), 2326-34; Lancet 342 (1993), 1230; Nature 366 (1993), 488, 742-5. A fifth neurologic disorder attributable to unstable trinucleotide repeats is Spinocerebellar ataxia, type I.
Intelligence or giftedness is discussed in BMJ 307 (1993), 1088-9. A strong role for the X chromosome in the development of grey matter in the brain is suggested from studies of Turner's syndrome patients, Lancet 342 (1993), 1197-200, 1188.
Some variations in susceptibility to alcohol damage have been found to be genetic, D.I.N. Sherman et al., "Association of restriction fragment length polymorphism in alcohol dehydrogenase 2 gene with alcohol induced liver damage", BMJ 307 (1993), 1388-90.
The characteristic symptoms and severity of patients with mutations in the cystic fibrosis (CF) transmembrane conductance regulator gene have been found to depend on the chromosomal background, i.e. what other genes are in the genome; Nature Genetics 5 (1993), 274-7. Some phenotypic conclusions that are important in determining whether CF patients will have pancreatic insufficiency or not are presented in NEJM 329 (1993), 1308-13. See also Nature 366 (1993), 18-9, 79-82.
The gene predisposing people to colon cancer and uterine cancer, has been cloned, Cell 75 (1993), 1027-38, 1215-25, 1227-36; New Scientist (11 Dec, 1993), 4-5; Nature 366 (1993), 722. About 1 in 200 Western people have the gene for susceptibility for colon cancer, called hereditary nonpolyposis colon cancer, about 10% of all colon cancers. The family dilemmas of the breast cancer gene linkage are described in an article in Newsweek (6 Dec), 46-55; New Scientist (18 Sept, 1993), 3, 34-8. A review of the clinical implications of the p53 tumour suppressor gene is NEJM 329 (1993), 1318-27; see also, BMJ 307 (1993), 1226-7; Science 262 (1993), 1644-5. p53 was called molecule of the year by Science. Several comments are in Science 262 (1993), 1953, 1958-61, 1980-1. On cancer genes and clinical testing, JAMA 270 (1993), 2331-5; and diagnosis of neurofibromatosis 2, JAMA 270 (1993), 2316-20.
The use of molecular genetics in cardiovascular disease therapy and prediction is reviewed in JAMA 270 (1993), 2269-71; Lancet 342 (1993), 1065. A common genetic cause of severe haemophilia A is inversions of the blood clotting factor VIII, Nature Genetics 5 (1993), 209, 236-41. Genes and multiple sclerosis are reviewed in JAMA 270 (1993), 2362-9. On collagen mutations and skeletal disease, Lancet 342 (1993), 1045; and on genetics and atopy, BMJ 307 (1993), 1019-20. The gene responsible for xeroderma pigmentosum has been found to encode a DNA helicase; Nature 365 (1993), 852-5. General comments on genes and common diseases are in JAMA 270 (1993), 2381.
There have been three papers reporting the cloning of genes responsible for Wilson disease, a disease involving copper metabolism; Nature Genetics 5 (1993), 317-8; 327-37, 338-43, 344-50; BBRC 197: 217-7; Science 262 (1993), 333. The gene encodes a putative copper binding ATPase enzyme, similar to that involved in another copper-related disease, Menkes disease. Beryllium disease is discussed in Science 262 (1993), 197-8, 242-4. The left-right asymmetry genes for mammals are discussed in Nature Genetics 5 (1993), 321-2; 403-7.
Genomic imprinting and DNA methylation is discussed in Nature 366 (1993), 302-3, 362-5. Also on DNA methylation, PNAS 90 (1993), 8761-2.
General comments on medical genetics include: a review of the last 40 years by V. McKusick, JAMA 270 (1993), 2351-6, 2370.
General papers on the origins of genetic disease are J. Zlotogora, "High frequencies of human genetic diseases: Founder effect with genetic drift or selection?", AJMG 49 (1994), 10-3; R. Strohman, "Epigenesis: The missing beat in biotechnology", Biotechnology 12 (1994), 156-64. The genetic loss of the Y chromosome is reported in Science 263 (1994), 171-2. See also a book review in Science 263 (1994), 255-6. A study of consanguineous couples with relevance for genetic counseling such couples is C. Stoll et al., "Parental consanguinity as a cause of increased incidence of birth defects in a study of 131,760 consecutive births", AJMG 49 (1994), 114-7. Another disease associated with unstable triplet repeats is reported in Nature Genetics 6 (1994), 9-13, 14-18, 3-4. The disease is dentatorubal-pallido-luysian atrophy (DRPLA).
A discussion of genes and aging, and in particular the ApoE and ACE genes, is Nature Genetics 6 (1994), 4-5; Nature 367 (1994), 201. A paper reporting a genetic association is F. Schachter et al., "Genetic associations with human longevity at the APOE and ACE loci", Nature Genetics 6 (1994), 29-32. They made a genetic study of 338 centerians and compared to other adults, and report results for those two genes. On ApoE and Alzheimer's see Science 263 (1994), 454-5, 537; JAMA 271 (1994), 89-91. Therapeutic approaches are discussed in Biotechnology 12 (1994), 140-4.
A study of twins has found a genetic linkage for 75% of the variation in bone density, which is associated with osteoporosis, N.A. Morrison et al., "Prediction of bone density from vitamin D receptor alleles", Nature 367 (1994), 284-7, 216-7.
At a Ministry of Education symposium in Japan it was announced that cancer patients who develop secondary tumours have differences in their CA repeat sequences from those who do not; Yomiuri Shimbun (5 Feb 1994), 30. A review of research on how cells cycle towards cancer is Science 263 (1994), 319-21. A letter on mismatch repair and cancer is Nature 367 (1994), 417.
Epidermal disease genes are discussed ion Nature Genetics 6 (1994), 6-7. A review of the genetics of primate colour vision is in TINS 17 (1994), 30-7. Heart disease and race is debated in NEJM 330 (1994), 216-7. The genetics of diabetes in a mouse model is reportedly associated with T cell receptor specificity, Science 262 (1993), 1582-4. A single gene found to be associated with four genetic diseases is discussed in Nature 367 (1994), 319-20.
Myotonic dystrophy is discussed in Nature Genetics 6 (1994), 117-8. The interesting case of restoration of half of the normal dystrophin sequence by a double deletion is reported in AJMG 49 (1994), 323-7.
Japanese researchers have announced results of a genetic study of the enzymes ADH and ALDH among alcoholics; Yomiuri Shimbun (18 Feb 1994), 30. Alcoholic patients were found to have two alleles for low levels of ADH and two alleles for high levels of ADLH, something found in 4.5% of Japanese. A biochemical study of the dopamine receptor gene is P.V. Gejman et al., "No structural mutation in the dopamine D2 receptor gene in alcoholism or schizophrenia. Analysis using denaturing gradient gel electrophoresis", JAMA 271 (1994), 204-8. A paper reporting an addiction gene is discussed in Science 263 (1994), 176. The study of male cocaine addicts reported a linkage to the A1 allele of the D2 dopamine receptor.
A mathematical critique of the paper reporting a genetic linkage with male homosexuality is Science 262 (1993), 2063-5. A commentary on genes for normal and diseases mental states, that reviews the World Congress on Psychiatric Genetics, is in TIG 10 (1994), 37-9. A review of genetics of schizophrenia is in Triangle 32: 1 (1993), 7-13.
A review of recent research findings in colorectal cancer is in Nature Genetics 6 (1994), 217-9; Science 263 (1994), 1559-60, 1625+; 264: 13-4; Nature 368 (1994), 258-61; Lancet 343 (1994), 629-32. Two important mutations have been reported by the same two teams in the last few months. Mutations in k-ras, p53, DCC and APC genes have been defined and analysed; and genomic instability in repeated DNA sequences in colon cancer is reported in Nature Genetics 6 (1994), 273-81. Imprinting is discussed in Nature Genetics 6 (1994), 220-1; and in lung cancer in p. 332-3. The idea of slow DNA repair being involved in tumours is discussed in Science 263 (1994), 1374, 1436-8. Also on p53, PNAS 91 (1994),, 1985-6; and in radon-associated cancer, Lancet 343 (1994), 86-7. Retinoblastoma gene mutations are discussed in NEJM 330 (1994), 786-7. The genetic basis of multidrug resistance in cancer is being discovered, BMJ 308 (1994), 148-9.
A discussion of the relatively small amount of research on prostrate cancer is in Nature Genetics 6 (1994), 215-6. It causes the death of many men, about 75% the number of women who die by breast cancer, yet in 1994 the US government will spend US$500 million on breast cancer research but only US$51 million on prostrate cancer research. On treatment in the USA see Lancet 343 (1994), 251-4. A review on familial breast cancer is BMJ 308 (1994), 183-7; and on familial cancer in general, Lancet 343 (1994), 709-13.
The relationship between trinucleotide repeats and sex determination is reviewed in Nature Genetics 6 (1994), 221-3. A book review on sex determination is Science 264 (1994), 116. The tissue instability of the Huntington's disease gene CAG repeat is reported in Nature Genetics 6 (1994), 409-14. Letters suggests the triplet repeat is a regulatory sequence are Science 263 (1994), 595-6; and other possibilities are discussed in Nature 368 (1994), 685.
The association between Alzheimer's disease and ApoE4 is discussed in BMJ 308 (1994), 672-3; and on other genes, AJHG 54 (1994), 374-83. ApoE4 also has effects on blood pressure as shown in data in Lancet 343 (1994), 57. A letter discussing the link between Xq28 and bipolar disorder is in Nature Genetics 6 (1994), 224. They conclude further research is required. An excess of the dopamine receptor gene D2 has been found in schizophrenia patients, Lancet 343 (1994), 686. Genes linked to motion sickness are also reported, New Scientist (8 Jan 1994), 6; and on alcoholic live disease markers, BMJ 308 (1994), 341. Advances in Fragile X syndrome analysis are reviewed in JAMA 536-42, 552.
The debate over genetic links to violence, from a Danish study, continues to evoke strong emotions, Science 263 (1994), 1375. A discussion of aggressive behaviour and mutations in monoamine oxidase gene is Current Biology 4: 175-7. Also on violence, New Scientist (26 Feb 1994), 10, 31-3. A book review of The Psychology of Crime, is Nature 368 (1994), 111.
A discussion of why there are about a dozen dominant genetic diseases common among Jews, and the metabolic links to the lysozyme in eight cases, are discussed in Nature 368 (1994), 291-2. A review of the mechanism of genetic dominance in general is JMG 31 (1994), 89-98. A review of recessive diseases in Arabs is A.S. Teebi, "Autosomal recessive disorders among Arabs: an overview from Kuwait", JMG 31 (1994), 224-33.
A theoretical paper on genetics of cot deaths is L. Weissbluth & M. Weissbluth, "Sudden infant death syndrome: A genetically determined impaired maturation of the photoneuroendocrine system: A unifying hypothesis", J. Theor. Biol. 167: 13-25. A general discussion on programmed cell death is BMJ 308 (1994), 421.
Diabetes is discussed in BMJ 308 (1994), 482; Lancet 343 (1994), 684-5. Genotype-phenotype correlation in cystic fibrosis is discussed in Lancet 343 (1994), 746-7; and mucin secretion in Lancet 343 (1994), 7. Heart diseases and genes are discussed in NEJM 330 (1994), 930-2. Familial hypercholesterolemia is discussed in JAMA 271 (1994), 543+. The gene for cystinuria has been shown to be rBAT; Nature Genetics 6 (1994), 328-9; 403-13. Connexins involvement in genetic disease is discussed in Nature 368 (1994), 18-9. A paper on prenatal diagnosis and the gene for X chromosome-linked hyper-IgM syndrome is PNAS 91 (1994),, 2110-4.
A further study of left-handed persons, in this case baseball players, supports some shortening in life expectancy; Science 263 (1994), 1567; New Scientist (12 March 1994), 16; BMJ 308 (1994), 408. What is clear is that left handers are at greater risk of accidental death. Genes controlling biological clocks are discussed in Science 263 (1994), 1570-2.
The birth statistics in NZ report the incidence of birth defects in 1990-1 to be 4.3%; NZ Med. J. 106 (1993), 489-92.
A mutation in the receptor for IgE has been found to be linked to atopy cases, a type of allergy; T. Shirakawa et al., "Association between atopy and variants of the b-subunit of the high affinity immunoglobulin E receptor", Nature Genetics 7 (1994), 125-30, pp.117-8; Science 264 (1994), 1533. This gene appears to be imprinted, being expressed from maternal chromosomes only. A possibility for imprinting of insulin is also suggested in Nature Genetics 7 (1994), 10. On imprinting, AJHG 54 (1994), 733-40; Cell 77 (1994), 473-6; TIG 10 (1994), 194-9. The genetics of immunoglobulin-class switching is discussed in NEJM 330 (1994), 1008-9; immunodeficiency, Science 264 (1994), 1596-1601; and prenatal diagnosis of Hyper IgM syndrome, NEJM 330 (1994), 969+, 1526-7.
The mechanism of growing of the triplet repeat mutations is discussed in Nature Genetics 7 (1994), 122-4; JAMA 271 (1994), 1686-7. (Huntington's): JMG 31 (1994), 377-82; B. Kremer et Al., "A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats", NEJM 330 (1994), 1401-6, 1450-1; and a stable tetrahelical structure for the repeats is reported in PNAS 91 (1994),, 4950-4. Dominant, BMJ 308 (1994), 1183-4; and recessive, Science 264 (1994), 1329-33; polycystic kidney disease genes exist.
A protective affect for the apoE2 allele is reported in E.H. Corder et al., "Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer's disease", Nature Genetics 7 (1994), 180-4; and on apoE4 and early Alzheimer's in Japan, pp. 10-1. A link between aluminium and Alzheimer's has been resuggested following a putative link with Tau protein, Lancet 343 (1994), 989, 993-7. Letters on early diagnosis of Alzheimer's include Nature 369 (1994), 365-6; MJA 160 (1994), 243-4; JAMA 271 (1994), 1316-7; and on tacrine for treatment, JAMA 271 (1994), 1023-4. Increased education may reduce the risk of the disease according to a New York study, Y. Stern et al., "Influence of education and occupation on the incidence of Alzheimer's disease", JAMA 271 (1994), 1004-10.
A study of ApoE genotype and Down's syndrome found little overall relationship in result, but the presence of ApoE2 delayed onset of Alzheimer's-like pathology, Lancet 343 (1994), 979-80, 1155. A study suggesting most of the features of Down's syndrome are spread over the whole chromosome, rather than any particular region, is PNAS 91 (1994),, 4997-5001; also JRSM 87 (1994), 276-7. A review of human partial monosomy syndromes is Nature Genetics 7 (1994), 5-7. The range of human sexual phenotypes are discussed in Nature Genetics 7 (1994), 7-9.
The AJMG Neuropsychiatric Genetics issue (15 June) 54: 83-157, contains many papers, especially on schizophrenia linkage studies. Also on schizophrenia, Lancet 343 (1994), 1044-6. A study on the gene causing maniac depression is in PNAS (15 June).
No relationship with ApoE phenotype and blood pressure is reported in Lancet 343 (1994), 1234-5; but adducin gene is related, PNAS 91 (1994),, 3999-4003. Elevated Lipoprotein (a) is a risk factor for heart disease, JAMA 271 (1994), 999-1003, 1025-6; TIG 10 (1994), 199+; as are ACE genes, Lancet 343 (1994), 851. The genetics of venous thrombosis, which affects about 1 in 1,000 people a year is reviewed in Nature 369 (1994), 14-5, 64-7.
A grant to look for breast cancer genes is discussed in Science 264 (1994), 495. A black American cohort with high incidence of breast cancer was found to have novel mutations in p53; Lancet 343 (1994), 1195-7. A new tumour suppressor that may be even more commonly mutated than p53, which is a cell cycle inhibitor is reported in Science 264 (1994), 436- ,344-5. General reviews include, NEJM 330 (1994), 1163-4; JAMA 271 (1994), 1448-54; on tumor antigens, Nature 368 (1994), 357-8; 369: 67-71; and on p53, JAMA 271 (1994), 1076d; PNAS 91 (1994),, 3602-6.
A review of genetic control and regulation is New Scientist (23 April 1994), 32-5. Sex and mutation is discussed in Nature 369 (1994), 99-100, 145-7. A debate over whether twinning is a genetic trait is in Lancet 343 (1994), 1151-2. Mitochondrial DNA inheritance is discussed in Nature 368 (1994), 818. On biological clocks see the animal model section above, also Science 264 (1994), 1616-7.
The major mutation in cystic fibrosis may have occurred about 50,000 years ago according to N. Morral et al., "The origin of the major cystic fibrosis mutation (F508) in European populations", Nature Genetics 7 (1994), 169-75. A uniform method for cystic fibrosis testing is discussed in AJHG 54 (1994), 925-7; and the results of a UK screening program are in JRSM 87 (1994) (Supplement 21), 5-10. Ancient neurofibromatosis is reported in Nature 368 (1994), 815.
The relationship between parasites (e.g. malaria) and polymorphism is discussed in Nature 369 (1994), 705. Allelic variation in the vitamin D receptor, and bone density, is discussed in Lancet 343 (1994), 1242. A twin study of heart disease suggesting genetic susceptibility is M.E. Marenburg et al., "Genetic susceptibility to death from coronary heart disease in a study of twins", NEJM 330 (1994), 1041-6. Genetic and environmental factors on complex diseases are debated in Lancet 343 (1994), 838-9. On diabetes, Lancet 343 (1994), 1147; BMJ 308 (1994), 1063-8. Loss of employment is shown to be a risk factor for death in J.K. Morris et al., "Loss of employment and mortality", BMJ 308 (1994), 1135-9.
The ability of bacteria to undergo Lamarkian-style evolution by increasing mutation rate in response to environmental selection is reviewed in Science 264 (1994), 224-5. A review of the autobiography of James V. Neel, Physician to the Gene Pool: Genetic Lessons and Other Stories, Wiley, 1994, 460pp., US$25, who studied radiation damage, is Nature 369 (1994), 111-2. The study of atomic bomb survivors is under financial pressure in Science 264 (1994), 338.
An inherited dystrophin that is not associated with muscle weakness is reported in JMG 31 (1994), 505-6. Myotonic dystrophy is discussed in Science 264 (1994), 587-8.
A study showing that there is higher risk of a disease in the second child if the first was affected is R. Terje Lie et al., "A population-based study of the risk of recurrence of birth defects", NEJM 331 (1994), 1-4. They found strong environmental factors, see also pp. 48-9. A gene map of 139 congenital malformations is JMG 31 (1994), 507-17.
A team of US researchers have isolated a gene that triggers breast cancer, GEN (15 June 1994), 1, 8. Several extra genes involved in colon cancer, which help explain the high incidence it has, are reported in N.C. Nicolaides et al., "Mutations of two PMS homologues in hereditary nonpolyposis colon cancer", Nature 371 (1994), 75-80. Also on colon cancer, Nature Genetics 7 (1994), 536-40; NEJM 331 (1994), 267-8. Malignant melanoma and p16 is debated in Nature Genetics 8 (1994), 3-5; Nature 370 (1994), 180; Science 264 (1994), 1846; with a paper claiming a link, C.J. Hussussian et al., "Germline p16 mutations in familial melanoma", Nature Genetics 8 (1994), 15-21. The role of bcl-6 in lymphoma is discussed in NEJM 331 (1994), 116-7. On p53 studies, PNAS 91 (1994),, 6098-102; Nature 370 (1994), 174-5; Lancet 344 (1994), 212-3; Science 265 (1994), 320, 334-5, 346-55.
A discussion and short review of phenotypic diversity, allelic series and modifier genes is Nature Genetics 7 (1994), 451-3. On parental imprinting, Nature Genetics 8 (1994), 5-7, 52-8; Nature 370 (1994), 178-9. Mutations in ZAP-70 protein tyrosine kinase gene have ben implicated in immunodeficiency diseases; Nature 370 (1994), 249-50; Cell 76 (1994), 947-58; Science 264 (1994), 1596-1601.
A prediction that we can expect more Huntington's disease in the future is D.C. Rubinsztein et al., "Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence", Nature Genetics 7 (1994), 525-30. Trinucleotide repeat sequence mutations have now been found to be involved in 7 disorders; Nature Genetics 7 (1994), 453-5; and a study of mutations by sperm typing is in Nature Genetics 7 (1994), 531-5. They suggest expansion of these regions has a different origin to contractions. On myotonic dystrophy mutations, Science 265 (1994), 669-71; JMG 31 (1994), 595-601. X-linked mental retardation is the subject of a special issue of AJMG 51(4), 281-550+.
The allele ApoE2 protects people against Alzheimer's, Lancet 343 (1994), 1432-3. A link between zinc and Alzheimer's disease is suggested in Science (3 Sept); and glycation is involved, Nature 370 (1994), 247-8. Treatments for motor neurone disease are discussed in BMJ 309 (1994), 140-1. Manic depression is discussed in Science 264 (1994), 1693-5. Also on psychology, Science 265 (1994), 476.
Dwarfism is usually a 100% autosomal dominant gene, and the mutations are reported in R. Shiang et al., "Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of Dwarfism, Achondroplasia", Cell 78 (1994), 335-42. The discovery of two fibroblast growth factor receptor genes (2 and 3) and the mutations that cause achondroplasia and Crouzon craniofacial dysostasis have been reported, Nature Genetics 8 (1994), 1-2, 98-103; Cell 78 (1994), 335-42. On human limb development genetics, AJHG 55 (1995), 1-6.
The gene for adult polycystic kidney disease, and mutations causing it, are discussed in Cell 77 (1994), 785-6; Science 264 (1994), 1844. A discussion of whether certain human genes, e.g. HLA genes, are risk factors for AIDS, is in Nature Genetics 7 (1994), 456-7. The genetics of allergies is in M.F. Moffat et al., "Genetic linkage of T-cell receptor a/d complex to specific IgE responses", Lancet 343 (1994), 1597-600. Sickle cell disease mortality is improving, NEJM 330 (1994), 1639-44.
A review is A.H. Slyper, "Low-density lipoprotein density and atherosclerosis", JAMA 272 (1994), 305-8. A debate over genes and environment in hypertension is in Lancet 344 (1994), 169-71; and papers showing a genetic link are M. Caulfield et al., "Linkage of the angiotensinogen gene to essential hypertension", NEJM 330 (1994), 1629-33; H. Schunkert et al., "Association between a deletion polymorphism of the angiotensin-converting enzyme gene and left ventricular hypertrophy", NEJM 330 (1994), 1634-8, 1678-9.
A dosage sensitive position on the X chromosome has been found to be related to male to female sex reversal in B. Bardoni et al., "A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal", Nature Genetics 7 (1994), 497-501. Genes and Aging are discussed in Lancet 344 (1994), 115.
On asthma, BMJ 308 (1994), 1584-6, 1591-6, 1596-600; 309: 72-3, 90-3. On diabetes, Lancet 343 (1994), 1377-8; and relationship to therapies for Alzheimer's, Biotechnology 12 (1994), 591-4.
A reason for the high incidence of the cystic fibrosis allele is given in Gabriel, S.E. et al. "Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model", Science 266 (1994), 107+. Variation in tumor necrosis factor gene is associated with malaria resistance, McGuire, W. et al. "Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria", Nature 371 (1994), 508-11. On HLA genes and disease, Meyer, C.G. et al. "HLA-D alleles associated with generalised disease, localised disease, and putative immunity in Onchocerca volvulus infection", PNAS 91 (1994),, 7515-9. Population genetics: Cruz-Coke, R. & Moteno, R. "Genetic epidemiology of single gene defects in Chile", JMG 31 (1994), 702-6.
The major news discussed in many journals is the discovery of the gene, BRC1, thought to be responsible for about half of the hereditary breast cancers, BRCA2, to chromosome 13q12-13", Science 265 (1994), 2068-90; Miki, Y. et al. "A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1", Science 266 (1994), 66-71; Futreal, P.A. et al. "BRCA1 mutations in primary breast and ovarian carcinomas", Science 266 (1994), 120-2. See also, Wooster, R. et al. "Localization of a breast cancer susceptibility gene Nature Genetics 8 (1994), 105-6; Nature 371 (1994), 279; Science 265 (1994), 1796-9; Time (26 Sept), 51; Cell 79 (1994), 1-3; Lancet 344 (1994), 761. Some racial differences in survival are reported in JAMA 272 (1994), 947-54.
Familial melanoma is linked to p16, another tumor suppressor gene, Nature 371 (1994), 180; Science 265 (1994), 1364-5. A review on Wilm's Tumour is NEJM 331 (1994), 586-90. In general on genes and cancer, Science 265 (1994), 1656-8; Lancet 344 (1994), 348-9; and on p53, Science 265 (1994), 2091+. In a twin study, little genetic effect was found in lung cancer, Miles Braun, M. et al. "Genetic component of lung cancer: cohort study of twins", Lancet 344 (1994), 440-3. A letter on the twin databank is AJMG 52 (1995), 254.
The study of genes in complex disorders is reviewed in Lander, E.S. & Scork, N.J. "Genetic dissection of complex traits", Science 265 (1994), 2037-48; 2008-10; AJHG 55 (1995), 410-5. The problems of complex genetic diseases are epitomised in diabetes, discussed in Nature Genetics 8 (1994), 108-10; and on viral infection roles,Time (3 Oct), 49. Recently genetic factors involved in insulin dependent diabetes mellitus have been localised to chromosomal regions, Nature Genetics 8 (1994), 189-94; Nature 371 (1994), 130-6, 161-4. The gene calponin has an anticancer effect in transgenic mice, Japan Times (23 Oct 1994), 2. It also is involved in arterial elasticity.
The location of a putative gene involved in length of heart beat is reported in Nature Genetics 8 (1994), 110-1, 113-4, 141-7; and on ethnic variations in hypertension, Lancet 344 (1994), 450+. Increased albumin level was found to be associated with higher death rate, Corti, M.-C. et al. "Serum albumin level and physical disability as predictors of mortality in older persons", JAMA 272 (1994), 1036-42. On diabetes genes, Nature 371 (1994), 104-5, 130-6, 161-4, 283; AJHG 55 (1995), 566-73. The major gene is in the major histocompatibility complex region, but there are other genes loosely involved. The complexity of the dystrophin-associated proteins is discussed in PNAS 91 (1994),, 8307-13. A review of lucodystrophy is JMG 31 (1994), 663-6.
Description of a triplet repeat disorder, atropy is Nagafuchi, S. et al., "Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)", Nature Genetics 8 (1994), 177-82. On Huntington's disease, Lancet 344 (1994), 714-7. The mutation of fibroblast growth factor receptor-3 causes achondroplasia; Nature 371 (1994), 252-4. A review of inherited variation in human vision is Cell 78 (1994), 357-60. Mitochondrial disease is reviewed in PNAS 91 (1994),, 8731-8, 8739-46; AJHG 55 (1995), 219-24.
On apoE4 and Alzheimer's disease, AJMG 54: 199-205, 286-8; and with diabetes,Lancet 344 (1994), 406. ApoE2 has a protective effect on Alzheimer's, Lancet 344 (1994), 473-4; AJHG 55 (1995), 588-9. Also on Alzheimer's, Schupf, N. et al. "Increased risk of Alzheimer's disease in mothers of adults with Down's syndrome", Lancet 344 (1994), 353-6; BMJ 309 (1994), 418; AJPH 84 (1994), 1261-4; Science 265 (1994), 1464-7; and on other genes, AJHG 55 (1995), 714-27. The role of dopamine receptors in opiate withdrawal syndrome is reported in Nature 371 (1994), 155-7; and the lack of a role of D3 receptor in obsessive-compulsive disorder, AJMG 54: 253-5; and schizophrenia, AJMG 54: 264-7; and absence of D4 correlation with schizophrenia, AJMG 54: 256-8; and bipolar affective disorder, AJMG 54: 259-63. On bipolar illness susceptibility, AJMG 54: 206-18. New possible genes for schizophrenia linkage are reported in AJMG 54: 271-8; Science 265 (1994), 1034-5; BMJ 309 (1994), 353-4. Issues in behavioural genetics are below, also Science 265 (1994), 1159, 1346-7; BMJ 309 (1994), 421-2.
An Israeli study suggesting increased Down's syndrome with more births is Lancet 344 (1994), 605. Another new journal is being produced in 1995, Nature Medicine, which will no doubt take more of the growing number of papers on genetic disease, and therapy.
The breast cancer gene BRCA1 has been found mutated in the patients of various other researchers, confirming the earlier discovery, as seen in Nature Genetics 8 (1994), 310, 387-91, 292-8, 399- 404; Lancet 344 (1994), 1236-7, 1444; NEJM 331 (1994), 1523-4; Nature 372 (1995), 574, 733; Science 266 (1994), 1470; also discussed in Current Biology 4: 1023-4; Scientific American (Dec 1994), 26-8. Recently the US Army gave US$210 in breast cancer research grants, Science 266 (1994), 212. DNA repair is discussed in Science 266 (1994), 728-30. On other cancer genes, Rabbits, T.H. "Chromosomal translocations in human cancer", Nature 372 (1995), 143-9; on colorectal cancer, Amer. J Med. Sci. 308: 295-308; tylois oesophagael cancer, Nature Genetics 8 (1994), 319-21. The structure of p53 is discussed in Nature 372 (1995), 482; and the relationship of p53 to the success of cancer therapy, Science 266 (1994), 807-10, 1321-2.
The gene for obesity has been found in mice, Zhang, Y. et al. "Positional cloning of the mouse obese gene and its human homologue", Nature 372 (1995), 425-32, 406-7; Science 266 (1994), 1477-8; Newsweek (12 Dec 1994), 48. Obesity has genetic and environmental factors, but it will be interesting to explore this gene in obese persons.
Vitamin D receptor genotypes and osteoporosis is discussed in Lancet 344 (1994), 1027, 1580-1. Linkage between angiotensinogen and hypertension are debated in NEJM 331 (1994), 1096-7. Other genes and heart disease are discussed in Lancet 344 (1994), 901-3; Cell 79 (1994), 407-14; Ann. Hum. Gen. 58: 369-79; AJHG 55 (1995), 1255-67.
Mitochondrial mutations and disease are discussed in Nature Genetics 8: 313-5; PNAS 91 (1994),, 10771-8. The genetics of an eye disease, macular dystrophies, are discussed in Nature Genetics 8 (1994), 315-7, 352-6.
A causative gene for inherited dystonia, which are movement disorders of unknown nature, has been found, Ichinose, H. et al. "Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase 1 gene", Nature Genetics 8: 236-41, 207-9. A new gene has been found for a late onset muscular disease, S. Bione et al. "Identification of a novel X- linked gene responsible for Emery-Dreifuss muscular dystrophy", Nature Genetics 8 (1994), 323-7.
A general discussion of dynamic mutations, such as the triplet repeat mutations, is Nature Genetics 8 (1994), 213-5. Machado-Jospeh disease is a recent disease which is the result of CAG expansions, Nature Genetics 8 (1994), 221-8; and a GCC repeat in Fragile X is reported in Nature Genetics 8 (1994), 229-35. A study on the complexity of the relationship between mutant triplet repeat length and the progression of Huntington's disease is JMG 31 (1994), 872-4. In polycystic kidney disease sometimes mutations in neighbouring genes are involved, prompting the name a contiguous gene syndrome, Nature Genetics 8 (1994), 328-32. The age of onset in familial adenomatous polyposis and type of mutation is reported in Ann. Hum. Genet. 58: 331-42.
Genetic mosaicism is sometimes found in humans, and involved in genetic disease, NEJM 331 (1994), 1403-7, 1447-9. Genomic imprinting is discussed in AJHG 55 (1995), 1073-5; F&S 62 (1994), 903-10. The differences in telomere length in humans appear to be genetic, and reduced telomere length has been associated with aging, AJHG 55 (1995), 866-9, 876-82.
The age of the cystic fibrosis mutation was suggested to be 2,600 generations old in Nature Genetics 7 (1994), 169-75, as reported. However, a letter criticising their calculations, and favouring the previously popular younger origin is Nature Genetics 8 (1994), 216-8. An unselfish gene is thought to have been found in the gene for factor V Leiden, NEJM 331 (1994), 1585-7.
Sickle cell anemia and fetal hemoglobin are discussed in Amer. J. Med. Sci. 308: 259-65. Spectrin mutations and disease are reviewed in Nature 372 (1995), 620-1. A relationship between superoxide dismutase and diabetes is shown in PNAS 91 (1994),, 9956-9.
The progression of Alzheimer's disease appears to be speeded by the presence of ApoE4 allele, compared to ApoE2 allele, when brain samples were analysed in a US and UK study. On ApoE4 and Alzheimer's, PNAS 91 (1994),, 11183-6; Nature 372 (1995), , 45-6, 92-4; Ann. Neurology 36: 797-9; and its link with cognitive decline in elderly men, Feskens, E.J.M. et al. "Apolipoprotein e4 allele and cognitive decline in elderly men", BMJ 309 (1994), 1202-6. There are some doubts over the finding that mothers of Down's syndrome adults have increased chance of Alzheimer's, Lancet 344 (1994), 1092-5, 938-9. On other Alzheimer's genes, Lancet 344 (1994), 1154-5. A pupil test for Alzheimer's disease is reported in Scinto, L.F.M. et al. "A potential noninvasive neurobiological test for Alzheimer's disease", Science 266 (1994), 1051-2, 973; New Scientist (19 Nov 1994), 5. Other papers on the disease include, JAMA 272 (1994), 1405-6, 1483. Apolipoprotein E has also been found to be linked to prion disease, Amouyel, P. et al. "The apolipoprotein E alleles as major susceptibility factors for Creutzfeldt-Jakob disease", Lancet 344 (1994), 1315-8, 1301-2.
A gene that affects reading has been found. This genetic link with dyslexia is reported in Cardon, L.R. et al. "Quantitative trait locus for reading disability on chromosome 6", Science 266 (1994), 276- 9; New Scientist (22 Oct 1994), 19. Depression and genes is discussed in in the book, Cohen, D.B., Out of the Blue: Depression and Human Nature (Norton, 368pp., $25), reviewed in New Scientist (3 Dec 1994), 42. Diagnosis of mental disease is universal, as reviewed in Ormel, J. et al. "Common mental disorders and disability across cultures. Results from the WHO Collaborative Study on Psychological Problems in General Health Care", JAMA 272 (1994), 1741-8, 1749-56, 1770-6, 1792; NEJM 331 (1994), 1163-6; also see JAMA 266: 1777-81; Lancet 344: 1008. Methods for molecular neurosurgery are reviewed in Biotechnology 12 (1994), 1075-8; and on neurology, Science 266 (1994), 970-1, 458+..
A study in London finding schizophrenia is spread in all ethnic groups is BMJ 309 (1994), 1115-9. The factors influencing schizophrenia act in early life, Jones, P. et al. "Child developmental risk factors for schizophrenia in the British 1946 birth cohort", Lancet 344 (1994), 1398-402. Also see JAMA 272 (1994), 1763- 9; Science 266 (1994), 221, 294-8.
About 1 in 1000 men have only half a Y-chromosome, and a reason behind some of these cases is Lahn, B.T. et al. "Xq-Yq interchanges resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq-karyotype", Nature Genetics 8: 243-50. Sex reversal and the SRY gene is discussed in Nature 372: 525+; Science 266 (1994), 1494-500. A book review on hormonal differences in sexes is New Scientist (20 Aug 1994), 42.
A study of the incidence of congenital abnormalities in an Arabic country found that 67% of the major congenital abnormalities were genetic and 28% were potentially preventable; Al-Gazali, L.I. et al. "The profile of major congenital abnormalities in the United Arab Emirates (UAE) population", JMG 32 (1995), 7-13. They also note some effects of consanguinity. A study suggesting that many of the genetic diseases common in the Ashkenazi Jewish population originated as recently as the 15th century is Risch, N. et al., Nature Genetics 9 (1995), 152-9. They studied the disease idiopathic torsion dystonia and identify the gene causing it; Nature 373 (1995), 455.
News on the association between superoxide dismutase and amylotrophic lateral sclerosis (ALS) are discussed in a conference report in Lancet 344 (1994), 1651-2. The media excitement about genetic discoveries and the mapping of a gene for Noonan syndrome are criticised in BMJ 310 (1995), 67.
A gene that may confer susceptibility to mycobacteria in humans is reported in Levin, M. et al. "Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene?", Lancet 345 (1995), 79-83.
The incidence of melanoma (skin cancer) in the world is increasing, which is partly due to the weakening ozone layer. A study showing that the phenotypic penetrance of the MLM2 gene for familial melanoma is increasing since 1900 is Battistutta, D. et al. "Incidence of familial melanoma and MLM2 gene", Lancet 344 (1994), 1607-8. There is heterogeneity in the breast-ovarian cancer family syndrome, including some role for BRCA1, is Narod, S.A. et al. "An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families", AJHG 56 (1995), 254-64. A study finding no clustering in such families is Easton, D.F. et al. "Breast and ovarian cancer incidence in BRCA1-mutation carriers", AJHG 56 (1995), 265-71.
Multiple endocrine neoplasia is caused by activation of the RET oncogene, Science 267 (1995), 381-3. A discussion of mismatch repair and cancer is Science 266 (1994), 1925-7, 1959-60; on p53, Nature Genetics 9 (1995), 41+; Biotechnology 13 (1995), 127-31; and a review is Hartwell, L.H. & Kastan, M.B. "Cell cycle control and cancer", Science 266 (1994), 1821-8; and on oncogenes, Science 266 (1994), 1942-3. The role of transcription-coupled repair and other genetic diseases is in Science 266 (1994), 1957-8.
Two genes for spinal muscular atrophy are reported in Lefebvre, S. et al. "Identification and characterization of a spinal muscular atrophy-determining gene", Cell 80, 155-65; Roy, N. et al. "The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy", Cell 80, 167-78, pp.1-5. Mutations in the DAX-1 gene give rise to two diseases, X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, Nature 372 (1994), 672-4. Mutations of spectrin that cause elliptical red blood cells are in Nature 372 (1995), 620-1.
Research on therapies for multiple sclerosis are discussed in Biotechnology 13 (1995), 118-21. Causes of insulin resistance are discussed in Nature 373 (1995), 384-5; and on a link between diabetes and the thrifty gene, Lancet 344 (1994), 1648. On mitochondrial DNA mutation rate see Lancet 345 (1995), 189; and JMG 32 (1995), 81-7. Characteristics of imprinted genes are described in Nature Genetics 9 (1995), 12-3.
A possible genetic presupposition to late-onset Alzheimer's is suggested also in Nature Genetics 9(2), Nature 373 (1995), 455-6. Recent progress in Parkinson's disease treatment is discussed in Science 267 (1995), 455-6. A book review on Down's syndrome is in AJMG 55: 114. A review is Karp, R.W. "Genetic studies in alcohol research", AJMG 54: 304-8. Views on alcoholism from 100 years ago are discussed in JAMA 272 (1994), 1895. On alcohol use, see the Drugs section. Neurological studies finding sex differences in brain activity is Gur, R.C. et al. "Sex differences in regional cerebral glucose metabolism during a resting state", Science 267 (1995), 528-31; Shaywitz, B.A. et al. "Sex differences in the functional organization of the brain for language", Nature 373 (1995), 607-9.
A report on the genetics of dwarfism is in NEJM 332 (1995), 58-9. A study showing that left-handedness in cricketeers is not associated with increased mortality is BMJ 309 (1994), 1681-4.
A review on human diabetes and obesity genes is TIBTECH 13 (1995), 52-5; NEJM 332 (1995), 679-80; and on diabetes genes, Nature 374 (1995), 95; Nature Genetics 9 (1995), 110-2, 284-92. A call to look at the patterns of diabetes with other diseases is BMJ 310 (1995), 545-7.
Papers on BRCA1 that confuse the understanding of its association with cancer are Nature 374 (1995), 577-8; Nature Genetics 355+, 439+. A paper finding that 18 of 31 patients with colon cancer had mutations predisposing to replication errors and colon cancer is Nature Medicine 1, cited in Nature 374 (1995), 577. They suggest this may encourage screening of younger patients at risk. A review is Cavenee, W.K. & White, R.L. "The genetic basis of cancer", Scientific American (March 1995), 72-9; and of the actions of the oncogene Ras is Cell 80 (1995), 533-41; the identification of the von Hippel-Lindau gene and its role in renal cancer, JAMA 273 (1995), 564-70; and on other cancer genes, PNAS 92 (1995), 647-8; JAMA 273 (1995), 571-6, 592; Brennan, J.A. et al. "Association between cigarette smoking and mutation of the p53 gene in squamous-cell carcinoma of the head and neck", NEJM 332 (1995), 712-7. It shows smoking is linked to head and neck cancer. A review of twin studies shows genetic susceptibility to Hodgkin's disease, NEJM 332 (1995), 413-8, 461-2.
A study further suggesting links between dopamine receptors and alcoholism is Nature Medicine 1, cited in Nature 374 (1995), 577. A study has found no link to the MNS blood group region in multiplex families, AJMG 60: 72-9. Sexual differences in brain action are reviewed in Newsweek (30 March), 42-8. Genetic studies and behaviour are debated from Drosophila studies in Greenspan, R.J. "Understanding the genetic construction of behaviour", Scientific American (April 1995), 72-8; see also Science 267 (1995), 791-2. A review finding different family patterns is Smalley, S.L. "Autism, affective disorders, and social phobias", AJMG 60: 19-26.
Alzheimer's is discussed in Nature 374 (1995), 316; Science 267 (1995), 793-4; and on the possible presence of a genetic influence that causes some positive effect of mild smoking for this disease, Lancet 345 (1995), 387. A paper suggesting more on the role of the Apolipoprotein gene is Bennett, C. et al. "Evidence that the APOE locus influences rate of disease progression in late onset familial Alzheimer's disease but is not causative", AJMG 60: 1-6. The ApoE4 allele is also associated with deposition of amyloid b-protein following head injury, Nature Medicine 1 (1995), 135-7. A chromosome 14 gene appears to be linked to early onset Alzheimer's, AJMG 60: 44-52. A possible link to prion protein gene deletions is observed in AJMG 60: 12-8.
A review of the transgenic mouse studies on Amyotrophic Lateral Sclerosis is Cell 80 (1995), 687-92; see also Lancet 345 (1995), 391. A review is Emard, J.-F. et al. "Neurodegenerative diseases and risk factors: A literature review", SSM 40 (1995), 847-58.
There are conflicting reports that the spinal atropy gene has been discovered, as not all are the same gene, Nature Medicine 1 (1995), 124-7. A review of differences between types of muscular dystrophies is Cell 80 (1995), 675-9; also, AJMG 60: 27-32. On cystic fibrosis, Lancet 345 (1995), 373, 637; on haemostasis, NEJM 332 (1995), 402-3. Sexual differences are found in pyruvate dehydrogenase deficiency, AJHG 56 (1995), 553-7. DNA analysis of familial hypertrophic cardiomyopathy, the major cause of early heart attacks, is discussed in MJA 162 (1995), 62-3.
Longevity and genes and lifestyle are discussed in Time (6 March 1995), 41; Science 267 (1995), 1269. Papers looking at the link to DNA damage and repair in telomeres are PNAS 92 (1995), 258-62; Nature Genetics 9 (1995), 104-6.
A review is Motulsky, A.G. "Jewish diseases and origins", Nature Genetics 9 (1995), 99-101; and a study of idiopathic torsion dystonia, Nature Genetics 152+.
The gene for polycystic kidney disease (PKD1) has been found. It is a dominant gene, and the protein has been called polycystin; American PKD1 Consortium, Hum. Molec. Genet. 4 (1995), 575-82; International Polycystic Kidney Disease Consortium, Cell 81 (1995), 289-98; Hughes, J. et al. "The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains", Nature Genetics 10 (1995), 151-60, pp. 123-4.
Cancer genes discussed in Lancet 345 (1995), 830-1; NEJM 332 (1995), 884-5; p53 is discussed in NEJM 332 (1995), 957-8; Lancet 345 (1995), 1181-2. A paper reporting genetic instability in young patients with colorectal cancer is Nature Medicine 1 (1995), 348-52; and on screening for it, NEJM 332 (1995), 861-7; Lancet 345 (1995), 1257-9. Tumor suppressor genes are discussed in Skuse, G.R. & Ludlow, J.W. "Tumour suppressor genes in disease and therapy", Lancet 345 (1995), 902-6; Science 268 (1995), 884-6.
Obesity genes are discussed in Nature Genetics 10 (1995), 125-6; with the discovery of the fat mutation gene in mice; Haggert, J. et al. "Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity", Nature Genetics 10 (1995), 135-42. On heart disease, Kim, H.S. et al. "Genetic control of blood pressure and the angiotensinogen locus", PNAS 92 (1995), 2735-9; Ridker, P.M. et al. "Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men", NEJM 332 (1995), 912-7; pp. 1058-64. On familial hypocholesterolemia treatment, Lancet 345 (1995), 807-9, 811-6.
A genetic resistance factor to hepatitis is reported in Thursz, M.R. et al. "Association between an MHC class II allele and clearance of hepatitis B virus in the Gambia", NEJM 332 (1995), 1065-9.
On insulin and diabetes, Human Molecular Genetics 4 (1995), 499-500, 501-6; cystic fibrosis, NEJM 332 (1995), 1475-80; BMJ 310 (1995), 949; Turcott's syndrome, NEJM 332 (1995), 839-47; Sickle cell anemia, SSM 40 (1995), 955-60; NEJM 332 (1995), 1372-4.
The use of the drug bromocriptine to treat alcoholics with the D2 dopamine receptor A1 allele is in Nature Medicine 1 (1995), 337-41. Musical ability and brain function is discussed in Science 268 (1995), 621-2.
The mutation in myotonic dystrophy is discussed in Nature Genetics 10 (1995), 132-3. A paper looking at the direction of expansion of the CTG repeat sequences involved in the triplet expansion genetic diseases in E. coli is Nature Genetics 10 (1995), 213-8. A review of repeats is Sutherland, G.R. & Richards, R.I. "Simple tandem DNA repeats and human genetic disease", PNAS 92 (1995), 3636-41. On Fragile X, JMG 32 (195), 162-9; Lancet 345 (1995), 1147-8.
Genetics of epilepsy is reviewed in Nature Genetics 10 (1995), 4-6, with a gene linked to partial epilepsy, Ottmans, R. et al. "Localization of a gene for partial epilepsy to chromosome 10q", Nature Genetics 10 (1995), 56-60. Antibodies are linked to one type of epilepsy, Science 268 (1995), 362-3. The gene for ocular albinism has been cloned, Bassi, M.T. et al. "Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome",Nature Genetics 10 (1995), 13-9.
On atherosclerosis and the lipoprotein lipase, Nature Genetics 10 (1995), 6-7, 28-33. The gene, Bak (Bcl-2 homologous antagonist/killer) mis a suicide gene and may be linked to the death of heart muscle cells during a heart attack, GEN (15 May 1995), 1, 23. A study confirming the genetic factor in osteoporosis is Spector, T.D. et al. "Influence of vitamin D receptor genotype on bone mineral density in postmenopausal women: a twin study in Britain", BMJ 310 (1995), 1357-60; Lancet 345 (1995), 990-1.
A letter suggesting that a human homologue of the Drosophila single-minded gene is the causative gene for facial features and some of the mental retardation in Down's syndrome is Nature Genetics 10 (1995), 9-10. A review of trisomy 16 is Prenatal Diagnosis 15 (1995), 109-21.
A study supporting the existence of a gene predisposing for schizophrenia is Wang, S. et al. "Evidence for a susceptability locus for schizophrenia on chromosome 6pter-p22", Nature Genetics 10 (1995), 41-6; see also Science 268 (1995), 792-4; AJMG 60 (1995), 103-8, 165-71; Human Molecular Genetics 4 (1995), 507-14. The cellular localisation of the Huntington's disease protein found it in the perikarya of some neurons, neurophiles, varicosites and in nerve endings; Nature Genetics 10 (1995), 104-10; and on genetic studies, Cell 81 (1995), 533-40; Human Molecular Genetics 4 (1995), 465-9; Clin. Genet. 47 (1995), 113-7; MJA 162 (1995), 385. The genetic and environmental factors in Hodgkin's disease are reviewed in Nature Medicine 1 (1995), 298-300. The prospects for therapy of Parkinson's disease in Nature Medicine 1 (1995), 201-2. Behavioural genetics is reviewed in TINS 18 (1995), 212-8. On manic depression, Lancet 345 (1995), 1368; and on bipolar affective disorder, AJHG 56 (1995), 1262-6.
Relationships between Alzheimer's genes and smoking tendency is discussed in Lancet 345 (1995), 627-31, 1054. Genetic links to Alzheimer"s are discussed in AJMG 60 (1995), 91-3; JAMA 273 (1995), 942-7, 1274-8; Lancet 345 (1995), 956-8; BMJ 310 (1995), 970-3; SA (June 1995), 48. The old idea that an active mind prevents or delays dementia is reinforced in BMJ 310 (1995), 951-2; see also Lancet 345 (1995), 666-7.
A review of why DNA is unstable and can mutate is NS (25 March, 1995), 28-33. Transcription-related disease is discussed in AJHG 56 (1995), 85 (1995), 1257-61. Telomerase enzyme is discussed in Lancet 345 (1995), 935-6; and telomeres in NEJM 332 (1995), 955-6. A general discussion of genomic instability is Nature Genetics 10 (1995), 1-2; and on imprinting, Nature 375 (1995), 16-7. Mismatch repair is discussed in Science 268 (1995), 738-40. Cell death genes are in TIG 11 (1995), 101-5; Science 268 (1995), 1445-9, 1456-62.
The gene, called fat, has been identified which is associated with obesity; Pelleymounter, M.A. et al. "Effects of the obese gene product on body weight regulation in ob/ob mice", Science 269 (1995), 540-3; also Science 269 (1995), 475-6, 543-9;GEN (15 June 1995), 25; JAMA 273 (1995), 369-70; Lancet 346 (1995), 134-5; Nature 376 (1995), 374. Another gene affecting obesity is in NEJM 333 (1995), 352-4. This gene expression impairs insulin processing, and other types of genetic change could be associated with other types of obesity. On genes in common diseases, BMJ 310 (1995), 1482-3.
The most common type of G6PD deficiency has been found to be associated with a 46-58% reduction in risk of malaria, Ruwende, C. et al. "Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria", Nature 376 (1995), 246-9. Mutation analysis is reviewed in a conference review in Nature Genetics 10 (1995), 375-6. The mutations in a gene for a G/T mismatch repair enzyme affect mutation rate, Science 268 (1995), 191+. A study finding 4 of 44 Bulgarian CF patients have double mutations is Human Molecular Genetics 4 (1995), 1169-71. A paper finding higher mutation rates with more transcription of RNA from DNA is Science 268 (1995), 1616-8; and a transcription activator enzyme is also associated with a human disease, Rubinstein-Taybi syndrome, Nature 376 (1995), 292-3.
Mutations in a basic body architecture transcription factor gene, HMGI-C are reviewed in Nature 376 (1995), 725-6, 771-4; Nature Genetics 10 (1995), 436-43; Cell 82 (1995), 57-65. Mutations in which a CCG expansion sequence is involved in are discussed after the study of an oncogene, CBL2, in Nature 376 (1995), 145-9. A mutation in a telomerase enzyme causing telomere elongation is reported in Nature 376 (1995), 403-9. More on the telomerase, Science 269 (1995), 1236-41.
The gene that may be the largest factor involved in hereditary breast cancer may be the same as the gene that causes the rare disease ataxia telangiectasia (AT), which has been found, Science 268 (1995), 1700-1, 1749+. A paper reporting 8 BRCA1 mutations in 10 breast/ovarian cancer families is Human Molecular Genetics 4 (1995), 1-7; also see, JAMA 273 (1995), 1692-3; Science 269 (1995), 305; Cancer Research (July 1995). It suggests that a screening test will be difficult. A genetic loci for skin cancer in mice, Nature Genetics 10 (1995), 424-9. On oncogenes, NEJM 332 (1995), 303-6; and on p53, Nature 376 (1995), 88-91. A finding that a gene, MAD, can stop the cancer effects of the oncogene, myc, is in Nature Medicine 1 (1995), 638+; Nature 376 (1995), 96. Genetic chimerism in hereditary nonpolyposis colorectal cancer is reported in Science 268 (1995), 1276-7, 1552.
A gene, AD3, involved in Alzheimer's is reported in Sherrington, R. et al. "Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease", Nature 375 (1995), 754-60; Lancet 346 (1995), 388; Science 268 (1995), 1845-6. It is repsonsible for about 75% of familial Alzheimer's disease. Another Alzheimer's gene is reported in Rogaev, E.I. et al. "Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene", Nature 376 (1995), 775-8. An early onset locus is on chromosome 14q24.3, Human Molecular Genetics 4 (1995),1355-64. Also on ApoE4 and Alzheimer's risk, Nature Genetics 10 (1995), 486-8; PNAS 92 (1995), 4725-7; and on familial genes, AJMG60 (1995), 221-7; Nature 375 (1995), 734-5. On zinc and Alzheimer's, Science 268 (1995), 1920-3.
A letter reporting findings that there are expanded CAG repeats in schizophrenia and bipolar disorder is Nature Genetics 10 (1995), 380-1. Expression of the Huntington's disease protein in HD patients is reported in Human Molecular Genetics 4 (1995),1365-71. Increased familial risk and evidence of genetic factor in migraine has been found, BMJ 311 (1995), 541-4. Automated linkage analysis to search for gene in psychiatric disorders is reported in AJMG60 (1995), 192-8. Depression and genes are discussed in Am. J. Psychiatry 152 (1995), 833-42; and platelet serotonin-2A receptor is linked to suicide in Pandey, G.N. et al. "Platelet serotonin-2A receptors: A potential biological marker for suicidal behaviour", Am. J. Psychiatry 152 (1995), 850-5.
Research on chromosome 21 and a transcript map is in Human Molecular Genetics 4 (1995), 1291-304; included is a locus related to Down's syndrome, Human Molecular Genetics 4 (1995),1305-11. A search for a gene predisposing to manic depression on chromosome 21 did not find anything, AJMG60 (1995), 231-3. On a locus for reading disability on chromosome 6, Science 268 (1995), 1553.
One of the enzymes that is a risk to hypertension is reported in Mune, T. et al. "Human hypertension caused by mutations in the kidney isozyme of 11b-hydroxysteriod dehydrogenase", Nature Genetics 10 (1995), 394-9. The problem that many blacks have more hypertension than whites is discussed in Lancet 346 (1995), 392. A molecular mechanism for cardiac arrhythmia is in Nature 376 (1995), 683-5.
On epilepsy, Nature 376 (1995), 122-3; Lancet 346 (1995), 140-4; polycystic kidney disease, NEJM 333 (1995), 56-7; Prader-Willi syndrome, Lancet 345 (1995), 1590; Hodgkin's disease, NEJM 333 (1995), 64-6. Hydroxyurea therapy for sickle cell disease is reviewed in Science 268 (1995), 1142-3.
On aging, Nature 376 (1995), 37-43, 398; Heredity 75 (1995), 216-21; Science 269 (1995), 218-21. On resetting of biological rhythms, Nature 376 (1995), 296-7. A paper asking what colour blind people see is in Nature 376 (1995), 127.
Breast cancer information is available on the world wide web, http://www.nchgr.nih.gov/dir; Nature Genetics 11 (1995), 238-9. See also a comment on BRCA1 in Jewish persons in methodology. The developmental expression of BRCA1 suggests a role in breast differentiation, Nature Genetics 11 (1995), 17-26. Even if BRCA1 is normal, some cells express it outside of the nucleus where it does not correctly function, thus it is still linked to breast cancer, Newsweek (13 Nov 1995), 72. On breast cancer risk factors, Lancet 346 (1995), 883-7; see also Disease Risks section.
The US National Cancer Institute is researching the possible link between telomerase and aging, GEN (15 Sept 1995), 1, 13, 35. A description of the RNA part of telomerase is Science 269 (1995), 1236-41. On p53 and cancer, Lancet 346 (1995), 109-11; PNAS 92 (1995), 8591-5, 8876-80; Hereditary aspects of prostate cancer, CMAJ 153 (1995), 895-900, 935+. Tumour suppression is discussed in Science 270 (1995), 1400-1. Mutations in the gene for GCSF receptor are implicated in a leukemia in NEJM 333 (1995), 487-93. A general review on defects of developmental genetics and birth defects is PNAS 92 (1995), 8566-73.
A survey of the mutations in familial presenile (under 65 years of age) Alzheimer's genes is Nature Genetics 11 (1995), 230-2. Three genes have been identified, two presenilin-1 and 2 in the past few months; (past issue) Lancet 346 (1995), 693, 1040; PNAS 92 (1995), 8552-9; Science 269 (1995), 917-8, 970-3, 973-7; and ApoE4 in 1991, St. Clair, D. "Apolipoprotein E4 allele is a risk factor for familial and sporadic presenile Alzheimer's disease in both homozygote ad heterozygote carriers", JMG 32 (1995), 642-4; also Lancet 346 (1995), 575, 967-8. PS-2 appears to be conserved in the nematode C. elegans, which may allow modelling, Nature 377 (1995), 351-4. Very low density lipoprotein receptor gene has been associated with sporadic Alzheimer's in Nature Genetics 11 (1995), 207-9. Also on dementia, Lancet 346 (1995), 931-4.
A review looking at methods to identify genes for complex diseases is Lander, E. & Kruglyak, L. "Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results", Nature Genetics 11 (1995), 241-7; Weissman, S.M. "Genetic bases for common polygenic diseases", PNAS 92 (1995), 8543-4. Genetic redundancy is discussed in The Plant Cell 7 (1995), 1347-56. Somatic mutation in Ig genes is reviewed in Cell 83 (1995), 9-12; and DNA methylation in Cell 83 (1995), 13-5.
Hypertension is discussed in Nature Genetics 11 (1995), 6-8; Amer. Scientist 83 (1995), 460-7; PNAS 92 (1995), 8545-51; and Liddle syndrome, an early onset hypertension, is caused by a truncated epithelial sodium channel gamma subunit, Nature Genetics 11 (1995), 76-82. Also Lancet 346 (1995), 515, 570-2, 869-72; and on angio-tensin converting enzyme genotype and disease, BMJ 311 (1995), 763-4. A gene linked to cleft lip is discussed and the interaction between genes and environment in AJHG 57 (1995), 227-32.
A further study verifying the link between Xq28 and homosexual tendency is Hu, S. et al. "Linkage between sexual orientation and chromosome Xq28 in males but not in females", Nature Genetics 11 (1995), 248-56; SA (Nov 1995), 26. A study has found that transsexualism may be linked to brain structure in the hypothalamus, Zhou, J.N. et al. "A sex difference in the human brain and its relation to transsexuality", Nature 378 (1995), 68-70; 15-6; Newsweek (13 Nov 1995), 72. Reviews of sexual development include, Science 269 (1995), 1822-7; 270 (1995), 113; SA (Oct 1995), 14, 20.
A paper examining the contributions of the FMR1 gene (Fragile X syndrome) to intelligence found that activation status of the gene is related to intelligence in girls, Reiss, A.L. et al. "Contribution of the FMR1 gene mutation to human intellectual dysfunction", Nature Genetics 11 (1995), 331-4. On alcoholism and genetics, AJMG 58 (1995), 267-71, 272-5.
A review of efforts to examine psychological disorders, mental modelling, is Nature Genetics 11 (1995), 109-10; Nature 377 (1995), 587. There is genetic differences in response to the drug clozapine, Lancet 346 (1995), 908-9, based on the type of serotonin receptor gene. The gene is also linked to bipolar affective disorder, Lancet 346 (1995), 969-70. Bipolar disorder genetics is reviewed in AJHG 57 (1995), 690-702.
A review looking at HEAT repeat sequences and Huntington's disease protein is in Nature Genetics 11 (1995), 115-6. A different type of heat disorder is seen in nematode genes, Lithgow, G.J. et al. "Thermotolerance and extended life-span conferred by single gene mutations and induced by thermal stress", PNAS 92 (1995), 7540-4. A study of how trinucleotide mutations work is Nature 378 (1995), 127; Science 269 (1995), 1682-3. Spinal muscular atrophy shows genetic homogeneity in childhood and adult-onset mutations, Lancet 346 (1995), 741-2.
Schizophrenia susceptibility and chromosome 6p24-22 is reported from a study of 265 Irish families in Straub, R.E. et al. "A potential vulnerability locus for schizophrenia on chromosome 6p24-22: evidence for genetic heterogeneity", Nature Genetics 11 (1995), 287-93; and is debated in Nature Genetics 11 (1995), 233-6; PNAS 92 (1995), 7607-8; also a mutation on chromosome 22q11, PNAS 92 (1995), 7612-6; McGuffin, P. et al. "Genetic basis of schizophrenia", Lancet 346 (1995), 678-82. There may be a complex relationship in studies with Chinese and European families, Nature Genetics 11 (1995), 321-4, 325-7. A neuroanatomical study of schizophrenia is Nature 378 (1995), 128-9, 176-9; and also see Lancet 346 (1995), 477-81, 743-9, 820-25.
A book review on the history of muscular dystrophy is in Nature 378 (1995), 141; and on genetic counseling, JMG 32 (1995), 645-9. On genetic susceptibility to asthma, NEJM 333 (1995), 894-900; Archives of Disease in Childhood 73 (1995), 112-6; Hodgkin's disease, NEJM 333 (1995), 934-6; male fertility in cystic fibrosis, Lancet 346 (1995), 587-8; and on CF, Science 269 (1995), 847-50; Cell 83 (1995), 121-7; mutation in factor V gene and risk of myocardial infarction, NEJM 333 (1995), 880-1; familial multiple sclerosis, Nature 377 (1995), 105-6, 150-1; Lancet 346 (1995), 979-80; ataxia telangiectasia, Cell 82 (1995), 685-7; diabetes, PNAS 92 (1995), 8560-5; Science 270 (1995), 35. On mitochondrial genetic disease, AJHG 57 (1995), 224-6; NEJM 333 (1995), 638-44.
Many researchers are focusing a search for a schizophrenia susceptibility gene onto chromosome 6, Science 270 (1995), 919; Nature 378 (1995), 665-6. Discussion of the role of dopamine receptors is in Lancet 346 (1995), 1303-4. Also on schizophrenia, NEJM 333 (1995), 1574. A survey confirming the role of ApoE4 as a risk factor for dementia is Lancet 346 (1995), 1387-90; NEJM 333 (1995), 1242-7; AJMG 60 (1995), 456-60. A proposal on the gene involvement in Alzheimer's disease, Science 271 (1996), 159. ApoE is also related to post-traumatic coma, Nature Medicine 1 (1995), 852. A study of apoptosis in Down's syndromes neurons also related to Alzheimer's is in Nature 378 (1995), 776-9; and on a biochemical approach to treatment of Alzheimer's, Nature 378 (1995), 284-7. A protein that interacts with Huntingtin has been identified, Science 270 (1995), 1110; NS (18 Nov 1995), 18; also see Nature 378 (1995), 403-6.
Lower intelligence is associated with a supernumerary X chromosome, AJMG 60 (1995), 356-63. A report of normal phenotype in two brothers with Fragile X mutation, suggesting methylation is required, is Human Molecular Genetics 4 (1995), 2103-8; the transmission also depends on sex, AJHG 57 (1995), 1408-13; 991-3, 1006-18. Gametic imprinting is reviewed in Science 270 (1995), 1610-3. Manic depression gene markers on chromosome 11 are reported in AJMG 60 (1995),386-92. A series of review papers on genetics of complex diseases are in TIG 11 (1995), 493-523.
Identification of BRCA2 is made in Wooster, R. et al. "Identification of the breast cancer susceptibility gene BRCA2", Nature 378 (1995), 789-91; 762-3; Science 271 (1996), 30-31. A study suggesting that the majority of breast cancer families with less than four cases and no ovarian cancer are probably not due to rare highly penetrant genes like BRCA1, but due to chance or more common genes of lower penetrance, AJHG 57 (1995), 1457-62. An aberrant localization of BRCA1 has been reported in Science 270 (1995), 789-91; Newsweek (13 Nov 1995), 72. On cancer genes, Lancet 346 (1995), 1281-2; NEJM 333 (1995), 1633-5; Science 270 (1995), 1511-2; Nature Medicine 1 (1995), 1215-7; Nature 378 (1995), 237-8; NS (7 Oct 1995), 6; (2 Oct), 24; and on p53, Nature 379 (1996), 19-20; Nature Medicine 1 (1995), 879-80. As discussed in the Patent section above, researchers have opened 900,000 base pairs of sequence thought to contain breast cancer genes on the Internet, Nature 378 (1995), 425.
A genetic marker for juvenile rheumatoid arthritis, called LMP2, has been found, GEN (1 Nov 1995), 36; and a gene for epilepsy, Science 270 (1995), 1677-80; and Bloom's syndrome, Cell 83 (1995), 655-66; Nature 378 (1995), 557-8; and of a new potassium channel responsible for cardiac arrhythmias, Nature Genetics 12 (1996), 1-2, 17-23. A new biological clock gene has been cloned, Science 270 (1995), 732-3; and a new genetic loci for diabetes, Nature Genetics 12 (1996), 4-6, 31-7, 38-43. Genetics versus environment in inflammatory bowel disease is in BMJ 312 (1996), 95.
Further genes affecting body weight are being determined, Cell 83 (1995), 803-12; Maffei, M. et al. "Leptin levels in human and rodent: Measurement of plasma leptin and ob RNA in obese and weight-reduced subjects", Nature Medicine 1 (1995), 1155+; Lonnqvist, F. et al. "Overexpression of the obese (ob) gene in adipose tissue of human obese subjects", Nature Medicine 1 (1995), 950-3, Hamilton, B.S. "Increased obese mRNA expression in omental fat cells from massively obese humans", Nature Medicine 1 (1995), 953-7; The leptin receptor has been cloned, Science 271 (1996), 29. Genetic factors have been identified in Gilbert's syndrome, NEJM 333 (1995), 1171-5, 1217-8. A mutant low density lipoprotein receptor gene associated with atherosclerosis and female sterility has been identified, PNAS 92 (1995), 9905-9.
Genetics of adult onset spinal muscular atrophy are reported in Lancet 346 (1995), 1162. Muscular dystrophy related genes are discussed in Science 270 (1995), 755-6, 819-22. On restinosis genes, Lancet 346 (1995), 1442-3. Cystic fibrosis is discussed in MJA 163 (1995), 397-8; SA (Dec 1995), 52-9; and a claim that the heterozygote has an advantage against asthma is dismissed in Nature Medicine 1 (1995), 978-9, 1100-1. Mutant CFTR plays a role in hypersusceptibility of cystic fibrosis patients to lung infections, Science 271 (1996), 64-67. A review of Gaucher disease is Medicine 74 (1995), 305-23.
Genetic susceptibility to Leishmania peruviana has been reported in AJHG 57 (1995), 1159-68.
Several papers on mice studies of genes involved in leukemia are in Nature Genetics 12 (1996), 149-53, 154-8, 159-67; Cell 84 (196), 321-30. Children of parents with adenomatous polyps are at increased risk of colorectal cancer, NEJM 334 (1996), 82-7; and on world differences in incidence, SA (Jan 1996), 27. Prediction of mutations in the hereditary non-polyposis colorectal cancer (HNPCC) gene is reported in 70% of cases in Nature Medicine 2 (1996), 169-75. A book review on the breast cancer gene hunt is Nature Medicine 2 (1996), 241-2; see also patenting section. On the dilemmas of mutations in BRCA1, NEJM 334 (1996), 137-42, 143-9, 186-8; AJHG 57 (1996), 42-51; Science 271 (1996), 451-2. The allelic loss of chromosome 1p is a predictor of unfavourable outcome from Neuroblastoma, NEJM 334 (1996), 225-30. Another suppressor gene has been identified, DPC4, Science 271 (1996), 294, 350-3.
The ApoE4 allele may influence the rate of motor neuron loss in motor neuron disease, Lancet 347 (1996), 159-60; and it can predict the poor response of some Alzheimer's disease patients to acetyl-cholinesterase, PNAS 92 (1995), 12260-4. On Alzheimer's, Science 271 (1996), 521-4; Down's syndrome, Nature Medicine 2 (1996), 31-2; schizophrenia, Lancet 347 (1996), 264; SA (Feb 1996), 22-3; ALS, Science 271 (1996), 51-9, 446-7. A review of the psychological aspects of neurofibromatosis 1 is in JMG 31 (1995), 921-4. Mutations in nonstructural protein 5A are predictors of the responsiveness of persons with chronic hepatitis 1b to interferon, NEJM 334 (1996), 77-81. Genetic susceptibility to asbestos-related diseases are reviewed in PNAS 92 (1995), 10819-20.
Even for single gene diseases there is no simple link between genotype and phenotype, BMJ 312 (1996), 196-7. On hypertension and diabetes, NEJM 334 (1996), 374-81; and a review of the continuing search for the cause of diabetes, Lancet 347 (1996), 4. A chloride channel mutation appears responsible for some kidney stones, Lloyd SE et al. "A common molecular basis for three inherited kidney stone diseases", Nature 379 (1996),445-9, 398-9.
A review of the genetics of human faces and abnormalities is Nature Genetics 12 (1996), 124-9; and the gene for Treacher Collins syndrome is reported in a review of the genetics of human faces and abnormalities is Nature Genetics 12 (1996), 130-6.
The finding that triplex DNA formed by the binding of a third strand of DNA to a double helix can speed mutation rate may explain the higher rate at some sequences, or hotspots, Science 271 (1996), 802; NS (17 Feb 1996). A review of chromosomal duplications is AJHG 57 (1996), 21-7. The locus from which the X-chromosome is inactivated is the Xist gene, Nature 379 (1996), 116-7, 131-3.
A review of trinucleotide repeat sequences and their origins is Science 271 (1996), 1374-5. There are now ten diseases with such sequences: CGG Fragile X syndrome, Fragile site 11B, Fragile XE MR; CAG Spinal & bulbar muscular atrophy, spinocerebellar ataxia type 1, Huntington's disease, Dentatorubral-pallidoluysian atrophy, (Haw River syndrome), Machado-Joseph disease; CTG myotonic dystrophy; GAA Friedeich's ataxia (Science 271 (1996), 1223-4, 1423-7). Also see NS (30 March 1996), 19. A study suggests that the size of the CAG expansion in Huntington's disease is not associated with psychiatric symptoms, AJMG 67 (1996), 53-7. On deletions of genes linked to spinal atrophy, JMG 33 (1996), 93-6.
Complexity in monogenic diseases is discussed in Nature Genetics 12 (1996), 348-50; and on analysis of complex traits, Nature Genetics 12 (1996), 355-8; Nature 380 (1996), 772-3. A review of genomic methylation patterns is Nature Genetics 12 (1996), 363-7; and of epigenetics and disease, Nature Medicine 2 (1996), 281-2. A gene for Barth syndrome has been identified, Nature Genetics 12 (1996), 385-89. Diabetic patients show more oxidative damage to their DNA, Lancet 347 (1996), 444-5; and on diabetes, NEJM 334 (1996), 777-83. A review of Gaucher disease is JAMA 275 (1996), 548-53. On cell aging, Cell 84 (1996), 497-504; and epilepsy, Science 271 (1996), 1672. A Persian cat model of human polycystic kidney disease inheritance is proposed in J. Heredity 87 (1996), 1-5. Also of interest to many, Spector, TD. et al. "Genetic Influences on osteoarthritis in women: a twin study", BMJ 312 (1996), 940-3.
The gene sequence of BRCA2 gene, another gene for breast cancer which a patent has been applied for, is in Nature Genetics 12 (1996), 333-7, comment p.222, 223-5, also 298-302, 303-8, 309-11. A new tumour suppressor gene, FHIT (Fragile Histadine Triad) has been found which is implicated in airway and digestive-tract tumours, GEN (15 March 1996), 1, 24. Severity of cystic fibrosis in mice is modulated by a second protein, Nature Genetics 12 (1996), 280-7. Short stature and growth hormone activity defects have been more positively linked, NEJM 334 (1996), 432-6, 463-5. Cardiovascular disease risk and polymorphism of the endothelial nitric acid oxide synthase gene is debated in Nature Medicine 2 (1996), 365-6. A review of hemachromatosis, abnormal iron absorption, which is one of the most common genetic diseases, is Nature Medicine 2 (1996), 394-5. A premature aging gene has been found for Werner's syndrome, Science 272 (1996), 193-4, 258-62.
The ApoE4 allele appears to be linked to meiosis II non-disjunction in young mothers, thus being linked to Down's syndrome, Lancet 347 (1996), 862-5. This allele is also linked to dementia, NEJM 334 (1996), 599-600; Lancet 347 (1996), 542. A review of Down's syndrome in Africa is JMG 33 (1996), 89-92.
People with ApoE4 who will develop Alzheimer's have altered sugar metabolism in the brain which means PET could be an early diagnostic tool, NEJM 334 (1996), 752-8. On the inheritance of early onset Alzheimer's disease through a rare Mendelian dominant mutation, AJMG 67 (1996), 9-12; and on presenilin-1, Lancet 347 (1996), 509-12. Links between Alzheimer's, Parkinson's and motor neurone disease are made in BMJ 312 (1996), 724; and on vascular factors, Nature 380 (1996), 108-10. Low level of linguistic ability in early life is linked to more Alzheimer's disease, JAMA 275 (1996), 528-32.
Examination of retroviral links to schizophrenia is reexamined in AJMG 67 (1996), 19-24; which calls for more sensitive methods. A paper supporting a susceptibility locus for schizophrenia at chromosome 22q12 is AJMG 67 (1996), 40-5; also Ann. Human Genetics 60 (1996), 105-23. A familial genetics study of psychosis is AJMG 67 (1996), 46-9. On the dopamine D3 receptor gene associations, AJMG 67 (1996), 63-70; and on serotonin 2A receptor gene, AJMG 67 (1996), 103-5. Manic depressive gene mapping is reviewed in Nature Genetics 12 (1996), 351-3; Science 272 (1996), 31-2. Genetics and mental retardation are reviewed in Quarterly J. Medicine 89 (1996), 169-75. Blind people have more sensitivity to touch in the primary visual cortex, Nature 380 (1996), 479-80.
A study suggesting a double risk for alcoholism in children with affected parents compared to unaffected parents when corrected for parental phenotype is Yuan, H. et al. "Segregation analysis of alcoholism in high density families: A replication", AJMG 67 (1996), 71-6. Data supports that the gene for handedness is in the X-Y homologous region, AJMG 67 (1996), 50-2.
A major susceptibility locus for non-insulin dependent diabetes has been found on chromosome 2, Nature Genetics 13 (1996), 161-6; Lancet 347 (1996), 1612. A second gene for polycystic kidney disease has been identified, Science 272 (1996), 1339-42. There seem to be a number of general health problems associated with inheritance of the C3F gene, GEN (15 May 1996), 1, 28. A series of papers on genetics of skeletal dysplasias is AJMG 63 (1996), 98-174.
Blood pressure is an easy measure as a cardiovascular risk factor, JAMA 275 (1996), 1571-6, 1604-6; and is genetically linked, Science 272 (1996), 676-80; a review of genetics of the disease is Science 272 (1996), 681-5. Genes and disease may contribute to inflammatory bowel disease, Lancet 347 (1996), 1198, 1212-9. Obese gene expression is related to feeding, PNAS 93 (1996), 3434-8, 4096-101 (see also earlier Sections). On trinucleotide repeats, PNAS 93 (1996), 1560-5. A rare form of epilepsy has been linked to a protease inhibitor on the X-chromosome, Nature 381 (1996), 26-7; SA (May 1996), 16-7; and retinitis pigmentosa gene has been located, Nature 381 (1996), 194-5, 253-5.
A review (including counseling aspects) of hereditary nonpolyposis colorectal cancer is AJMG 62 (1996), 353-64. Studies on BRCA1 include NEJM 334 (1996), 1197-200; Science 272 (1996), 799; and BRCA2 include Nature Genetics 13 (1996), 22-3, 117-28, 241-7. p53 can also provide prognostic value in breast cancer, PNAS 93 (1996), 1093-6. Polyclonal origin of colonic adenomas has been found in a patient with FAP, Science 272 (1996), 1187-9. A gene which modulates prostrate cancer risk has been identified, Science 272 (1996), 1271. A type of skin cancer is hereditary, Gorlin's or basal Cell nevus syndrome. Two groups have identified the gene to be the human version of patched, a gene first identified as a component of a developmental pathway in the fruit fly, Science 272 (1996), 1583-1584, 1621+, 1668+.
Mutant nematode worms that live six times more than normal have been made among C.elegans, and they have late development, NS (25 May 1996), 16. The genetics of aging is reviewed in Martin, GM et al. "Genetic analysis of aging: role of oxidative damage and environmental stresses", Nature Genetics 13 (1996), 25-34. A genetic review of vitamin D is in Biochemical J. 316 (1996), 361-71.
On genetic drift, AJMG 62 (1996), 327-9; 63 (1996), 329-331; and the reasons for dominance and recessivity, Genetics 143 (1996), 621-5. It has been estimated that the deleterious mutation rate for overall fitness in E.coli is over 0.0002; Nature 381 (1996), 694-7. Also on mutation rate after Chernobyl, see Disease Risks section. On microsatellite instability, Nature Medicine 2 (1996), 630-1; and on mutations, Nature 381 (1996), 110-1. Some diseases are caused by signal sequence polymorphisms, PNAS 93 (1996), 4471-3.
Genetic links to schizophrenia are discussed in AJMG 67 (1996), 121-3, 124-6, 133-8, 139-46, 162-71, 179-90, 208-11, 225-8, 232-4, 235-7, 239-43, 289-300; and the T102C polymorphism of 5-hydroxytryptamine type 2a-receptor gene, Lancet 347 (1996), 1274, 1294-6; and to bipolar disorder, AJMG 67 (1996), 215-7, 244-53; 254-63; and manic depression, Lancet 347 (1996), 1634. Only a weak link is reported in Sweden between ApoE4 and Alzheimer's disease, AJMG 67 (1996), 306-11. A statement on the linking of Apolipoprotein genotype and Alzheimer's is in Lancet 347 (1996), 1091-5, 1184-5. Susceptibility to dementia may be apparent even in early age from writing simplicity, SA (June 1996), 26, 28. On complex traits and genetics, Nature Genetics 13 (1996), 131-2.
The role of the HLA genes in the disease haemochromatosis has been made clearer following the sequencing of a 250kb region of the genome, Feder, JN. et al. "A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis", Nature Genetics 13 (1996), 399-408; 375-6, 386-8; Nature Medicine 2 (1996), 394-5; Nature 382 (1996), 494-5.
Multiple loci have been identified for multiple sclerosis following genome screening with multiplex families in Canada, UK and USA; Nature Genetics 13 (1996), 377-8, 464-80; Lancet 347 (1996), 1728-30; Science 273 (1996), 741. On diabetes, Nature 382 (1996), 211-3; and a review on neuromuscular disorders, TIG 12 (1996), 294+.
The involvement of the triplet repeat sequence in Huntingtin has been associated with apoptosis (cell death), Goldberg, YP. et al. "Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine trait", Nature Genetics 13 (1996), 442-9, 380-2. The links between repeat number and disease and complex, AJHG 59 (1996), 1-6, 16-22, 475-7.
The September 1996 issue of Scientific American is on cancer, with 168 pages on the subject including some issues of diagnosis and ethics. An Internet database on cancer gene mutations is on-line at <http://www.cf.ac.uk/uwcm/ mg/hgmd0.html. On BRCA1 see Nature Genetics 13 (1996), 264-72; JAMA 275 (1996), 1819-21; Nature 382 (1996), 672; and on p53, Nature Medicine 2 (1996), 724-5, 745-6, 804-10, 811-4. Also on cancer, Nature Medicine 2 (1996), 937-8; JAMA 275 (1996), 1833-4. The drug cisplatin appears to work by blocking DNA repair, NS (17 August 1996), 17. Gene tests guide management of surgery with familial adenomatous polyposis, Lancet 348 (1996), 433-5. Protein minimization by mutation is reviewed in PNAS 93 (1996), 5680-1, 5688-92. On DNA methylation, Science 273 (1996), 574-5.
Use of APOE4 genotyping in Alzheimer's disease diagnosis and prediction is discussed in Lancet 348 (1996), 90-3, 325, 334-5, 420-1, 483-4; MJA 165 (1996), 77-80. Genetics of Alzheimer's involves presenilin 1 and 2 and these increased secreted amyloid beta-protein, Nature Medicine 2 (1996), 864-70, 871-5. Linguistic associations in early life and the disease are explored in JAMA 275 (1996), 1879-80. Research on aging is discussed in NS (22 June 1996), 24-9; TIG 12 (1996), 283-5; Science 273 (1996), 42-80, 359-61; PNAS 93 (1996), 6140-5; Nature 382 (1996), 506, 545-7.
A Japanese study has found no evidence of association between dopamine transporter gene and alcoholism, AJMG 67 (1996), 412-4. Links between tyrosine hydrolase enzyme and manic depression are studied in Lancet 348 (1996), 336. Depression is linked to bipolar disorder across countries, JAMA 276 (1996), 293-9. A biological marker for dyslexia has been found revealed by MRI, Nature 382 (1996), 19-20. On genetics of schizophrenia see AJMG 67 (1996), 332-7, 343-6, 366-8, 406-8, 424-8; Lancet 347 (1996), 1830-2. Two special issues of AJMG 64 (12 July, 9 August, 1996), are on X-linked mental retardation.
Jorgensen, HL. et al. "Relation of common allelic variation at vitamin D receptor locus to longitudinal population study," BMJ 313 (1996), 586. Genetic liability to osteoarthritis may be greater in women than men BMJ 313 (1996), 232; and there are geographic variations, Lancet 348 (1996), 136-7.
The ApoE protein has been found to show antioxidant effects, protecting cultured nerve cells from oxygen damage, GEN (1 Oct 1996), 20; Nature Genetics 14 (1996), 55-61. Estrogen may lower risk of Alzheimer disease. Researchers found that the risk of Alzheimer disease and related dementia was one-third lower among women taking estrogen, whether oral or non-oral, when compared with women who had never used estrogen. The risk was reduced even further among those who had been taking estrogen for longer periods of time; Arch Internal Med. 156 (1996), 2213-2217. A review of the incidence of the disease across different cultures is JAMA 276 (1996), 993-5. Japanese, Japanese-American comparisons of dementia are reported in NEJM 335 (1996), 955-60. On the use of new diagnostic tests, Lancet 348 (1996), 960-1; and on the mechanism, Nature 383 (1996), 476-7, 550-3, 673.
A further triplet repeat disease has been found, Durr A., et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. NEJM 335 (1996), 1169-75, and an editorial on triplet diseases. A survey of the ten classes of trinucleotide repeats is Gastier, JM et al. "Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers", Human Molecular Genetics 4 (1996), 1829-36. A study has found that repeat length influences disease onset, rate of progression, and clinical phenotype in spinocerebellar ataxia type 3; Lancet 348 (1996), 830. Longer is worse.
A review paper is Lee, JK. et al. "Number of lethal equivalents in human populations: how good are the previous estimates?", Heredity 77 (1996), 209-16. Five gene loci linked to arthritis have been reported recently, Nature Genetics 14 (1996), 82-5; Lancet 348 (1996), 672; and six to asthma, Nature 383 (1996), 247-50; Lancet 348 (1996), 811; and on atopic diseases, Lancet 348 (1996), 560-1, 581. A gene for vesicoureteric reflux (reverse flow of urine) has been identified, Lancet 348 (1996), 725-8. On ACE genes, NEJM 335 (1996), 1070-1; and atherosclerosis, JAMA 276 (1996), 989-92; NEJM 335 (1996), 848-54. The functioning of the gene causing Wiskott-Aldrich syndrome is in Lancet 348 (1996), 950.
A genetic test for osteoporosis is reported in BMJ 313 (1996), 960-1; Nature Genetics 14 (1996), 203-5; Nature Medicine 2 (1996), 1077-8, 1132-6. The molecular basis of alkaptonuria, the first Mendelian recessive trait to be identified (in 1902) is reported in Nature Genetics 14 (1996), 19-24. A mouse study of genetics of epilepsy is Nature Genetics 14 (1996), 218-22. Genes and schizophrenia are discussed in AJMG 67 (1996), 455-8, 459-67, 483-4, 485-7, 495-8. Dopamine D2 receptor contributes to Tourette syndrome phenotype, Nature Medicine 2 (1996), 1076-7.
The telomere-telomerase hypothesis of aging and cancer is being refined, Nature Biotechnology 14 (1996), 836-9. On cancer genes, patched, Nature Genetics 14 (1996), 7-8, 78-81; Lancet 348 (1996), 743; myc, Nature Genetics 14 (1996), 8-10; BRCA1 mutations in ovarian cancer are thought to be responsible for 90% of the familial cases, AJO&G 175 (1996), 736-46; and on tumour sup-pressor genes, Nature Genetics 14 (1996), 25-32. A genome-wide scan for prostrate cancer genes begun JAMA 276 (1996), 861-3.
Obesity and genes are discussed in the Disease Risks and Diet section above. Also see Lancet 348 (1996), 698-9. Mitochondrial DNA and disease is reviewed in Nature Medicine 2 (1996), 1065-8. Papers on DNA repair are in Nature 383 (1996), 579-80, 641-6; and on demethylation, Cell 86 (1996), 709-18. There appear to be at least 4 genes that are needed to develop male humans, NS (5 Oct. 1996), 18; Nature Genetics 14 (1996), 206+.
An Israeli study of patients with ovarian cancer, found 185delAG mutation was detected in 39% (7/18) of ovarian cancer patients with familial history, and 13.1% (8/61) of family history-negative ovarian cancer cases; Modan, B. et al. "High Frequency of BRCA1 185delAG Mutation in Ovarian Cancer in Israel", JAMA 276 (1996), 1823-1825. Only 1 carrier was detected among the 120 healthy controls, and none in the hospital controls. A significant difference in mutation carrier rates between family history-negative cases and control groups of 120 and 62 subjects was identified. Their data suggest that BRCA1 185delAG germline mutation may confer an early-onset phenotype of ovarian cancer. Another Israeli study on both BRCA1 and BRCA2 is Nature Medicine 2 (1996), 1179-83; Lancet 348 (1996), 1328. Also on BRCA1, JMG 33 (1996), 814-9; NEJM 335 (1996), 1413-6; Lancet 348 (1996), 1098; GEN (15 Oct 1996), 18; Nature Genetics 14 (1996), 253-4, 431-40, 441-49. On informing persons, Winter PR et al. "Notification of a family history of breast cancer: Issues of privacy and confidentiality", AJMG 66 (1996), 1-6. A gene linking smoking to breast cancer has been found, called N-acetyltransferase 2, NS (9 Nov 1996), 4; Ambrosone CB et al. "Cigarette smoking, N-acetyltransferase 2, genetic polymorphisms, and breast cancer risk", JAMA 276 (1996), 1494-1501, 1511. Bone mineral density is another predictor of breast cancer in older women, JAMA 276 (1996), 1404-8. Book reviews on the search for the origins of cancer are Nature 383 (1996), 777-8; Nature Medicine 2 (1996), 1268; BMJ 313 (1996), 1154-5.
A genome-wide scan performed in 66 high-risk prostate cancer families has provided evidence of linkage to the long arm of chromosome 1 (1q24-25). Analysis of an additional set of 25 North American and Swedish families with markers in this region resulted in significant evidence of linkage in the combined set of 91 families, Smith JR. et al. "Major Susceptibility Locus for Prostate Cancer on Chromosome 1 Suggested by a Genome-Wide search", Science 274 (1996), 1371-1374, 1301. Anticipation in familial leukemia is discussed in AJHG 58 (1996), 973-9, 990-8. The role of chaperones for tumour antigenes in the immune system is being unraveled, Lancet 348 (1996), 1438. Also on cancer genes, Nature Genetics 14 (1996), 255-7, 465-7, 468-70. On genetic drift, AJMG 65 (1996), 257-8; and on the progress in genetics, Nature Genetics 14 (1996), 235-6.
New results, presented in November 1996 at the annual meeting of the Society for Neuroscience in Washington, D.C., indicate that the protein produced by the presenilin PS1 gene is apparently needed for the proper operation of a major developmental regulatory pathway, the Notch pathway, Science 274 (1996), 1838-1840. A gene for Parkinson's disease may be found, BMJ 313 (1996), 1278; GEN (1 Nov 1996), 34. A model for CAG repeat expansion in Huntington's is Ann Hum.Genet. 60 (1996), 423-35; Human Genetics 98 (1996), 633-5. On CAG and CAA expansions in spinocerebellar ataxia type 2, Nature Genetics 14 (1996), 269-76, 277-84, 285-91.
Sex differences in depression are discussed in SSM 43 (1996), 1453+. Variations in genes of colour blindness as reported in Science 274 (1996), 801+; NS (16 Nov 1996), 18. Genes and schizophrenia are reported in AJMG 67 (1996), 505-14, 515-22, 556-9, 580-94, 595-610; and bipolar disorder, AJMG 67 (1996), 533-40, 546-50, 551-5. On genes and behaviour, TINS 19 (1996), 470. A trait for hyperactivity in rats has been found, Nature Genetics 14 (1996), 471-3.
A mutation linked to hepatitis infection has been found for Caucasians, but not Asians, Thomas, HC et al. "Mutation of gene for mannose-binding protein associated with chronic hepatitis B viral infection", Lancet 348 (1996), 1417-9. A review on how switching to fetal hemoglobin genes has been therapeutic to those with sickle cell anemia is Mestel, R. "Young blood. New life", NS (16 Nov 1996), 38-42; also on the disease, JAMA 276 (1996), 1472. On genes for Tourette syndrome, AJHG 59 (1996), 980-2; and agammaglobulinemia, NEJM 335 (1996), 1523-5. A theoretical paper on extinction, whether it is bad genes or weak chaos is Proc. Royal. Society London B 263 (1996), 1407-13.
The obesity syndrome of ob/ob mice results from lack of leptin, a hormone released by fat cells that acts in the brain to suppress feeding and stimulate metabolism. In the absence of NPY, ob/ob mice are less obese because of reduced food intake and increased energy expenditure, and are less severely affected by diabetes, sterility, and somatotropic defects; Erickson, JC. et al. "Attenuation of the Obesity Syndrome of ob/ob Mice by the Loss of Neuropeptide Y", Science 274 (1996), 1704-1707. One of the consequences of obesity is an increased risk of non-insulin-dependent diabetes, and Cohen et al. p. 1185+, show it may be mediated in part by leptin, a recently discovered drug that causes satiety; Science 274 (1996), 1151.
Inherited hearing loss is the result of many genes, reviewed in Petit, C. "Genes responsible for human hereditary deafness: symphony of a thousand", Nature Genetics 14 (1996), 385-91. Mutations in hepatocyte nuclear factor-1a gene have been linked to maturity-onset diabetes of the young (MODY3), Nature 384 (1996), 455-7, 407-8. Research on sexual health of persons with cystic fibrosis is called for in BMJ 313 (1996), 1065.
An Israeli study of consanguinity is Zlotogora, J. "Dominance and homozygosity", AJMG 68 (1997), 412-6. It was found that homozygotes with Machado-Joseph disease are more severely affected than heterozygotes, but not for Huntington's disease. A study among Palestinians in Israel was also made, Zlotogora, J. "Genetic disorders among Palestinian Arabs: 1. Effects of consanguinity", AJMG 68 (1997), 472-5.
A series of papers on Smith-Lemli-Opitz syndrome are in AJMG 66 (1996), 251-339. On the CF transmembrane receptor, Science 275 (1997), 1324-7; NEJM 334 (1997), 487-91. Somatic genetic changes in colon cancer are reported in Science 275 (1997), 967-9. The glaucoma gene has been cloned, Science 275 (1997), 621. A monkey virus DNA has been found in rare human cancers, Science 275 (1997), 748. On genetic polymorphisms and breast cancer risk, JAMA 277 (1997), 1494-1501. On BRCA2 gene NatGen 15 (1997), 103-6; AJHG 60 (1997), 313-9; and p53, Newsweek (13 Jan 1997), 38-43. In general on cancer, Science 275 (1997), 36; NEJM 334 (1997), 367-9.
On myotonic dystrophy NatGen 15 (1997), 190-6; asthma genetics, NatGen 15 (1997), 227; Wiskott-Aldrich syndrome, Science 275 (1997), 27-8; multiple sclerosis, Lancet 348 (1996), 1674-5. On genetics and obesity and hyperinsulinemia, NatGen 15 (1997), 269-72; and leptin, NatGen 15 (1997), 273-7. Canadian researchers have found evidence suggesting that degenerative disk disorders are more strongly linked to genetic factors than to environment, CMAJ 156 (1997), 477. On genotyping in general, Science 275 (1997), 153; and the age of alleles, AJHG 60 (1997), 447-58.
Genetic analysis of complex diseases is discussed in Science 275 (1997), 1327+; AJHG 60 (1997),13-6, 27-39. Papers on genetics of schizophrenia are in AJMG 74 (1997), 1-11, 21-5, 37-57, 99-111; NS (25 Jan, 1997), 18; PNAS 94 (1997), 587-92; Nature 385 (1997), 578-9, 634-6. A trait of reward dependence has been linked to serotonin receptor in an Israelis study, Ebstein RP. et al. "5-HTR2c serotonin receptor gene polymorphism associated with the human personality trait of reward dependence: Interaction with dopamine D4 receptor and dopamine D3 receptor polymorphisms", AJMG 74 (1997), 65-72. A review of Parkinson's disease is SA (Jan 1997), 52-9. A consensus statement on the undertreatment of depression is JAMA 277 (1997), 333-40.
APOE genotyping and response to drug treatment in Alzheimer's disease Science 275 (1997), 630-1; AJHG 60 (1997), 439-46; Lancet 349 (22 Feb 1997); Ann Hum Genet. 60 (1996), 509-16. On Alzheimer's disease, Science 275 (1997), 630-1; Nature 385 (1997), 773-4; NatMed 3 (1997), 28-9, 67-72.
On cancer genes (see also Animal Genetic Engineering section), beta-catenin has been found to be an oncogene, Science 275 (1997), 1752-3, 1784-7, 1787-90, 1790-2; Nature 386 (1997), 623-7, 761-2; Steck, PA. et al. "Identification of a candidate tumour suppresser gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers", Nature Genetics 15 (1997), 356-62; PNAS 94 (1997), 2545-9; NS (29 March 1997), 19. On p53 mutations, NEJM 336 (1997), 734. Aging and ovarian cancer is reviewed in Lancet 349 (1997), 700-1; and on p53 and drug resistance in ovarian cancer, Lancet 349 (1997), 744-5. In general on cancer genetics, Nature Genetics 15 (1997), 221-2; AJHG 60 (1997), 469-73, 474-85, 751-4; Nature 386 (1997), 139-40; Science 275 (1997), 1796-800; JAMA 277 (1997), 467-71, 497-8. Studies on the incidence of BRCA1 prevalence are AJHG 60 (1997), 496-504, 505-14; JAMA 277 (1997), 533-4; JAMA 277 (1997), 963; Nature Genetics 15 (1997), 226. SV40 has been found in some cancers, Science 275 (1997), 748-9. On hox genes, Science 275 (1997), 1568.
A book review of Orel, V., Gregor Mendel. The First Geneticist (Oxford Univ. Press 1996) is in Science 275 (1997), 1438. Book reviews of The lac Operon. A Short History of a Genetic Paradigm (NY Hawthorne, 1996, 207pp.) are Science 275 (1997), 938; Nature 386 (1997), 235; and of the discovery of DNA, Nature 386 (1997), 344-5. A selective reduction in mutation rate of the X chromosome has been discovered, Nature 386 (1997), 388-92. In general on looking at genes and disease, TIG 13 (1997), 123; TIBTECH 14 (1996), 329-31; Science 275 (1997), 1327-30. Genetics of rhythms are in TIG 13 (1997), 111-5. A new study by the US Nat. Inst. Environmental health has began, as reported above in the Environmental section, an Environmental Genome Project, JAMA 277 (1997), 524.
Genes for rhizomelic chondrodysplasia punctata are reported in Nature Genetics 15 (1997), 369-384. The Collaborative Study on the Genetics of Asthma, "A genome-wide search for asthma susceptibility loci in ethnically diverse populations", Nature Genetics 15 (1997), 389-92; 227-9. An unstable minisatellite expansion is related to a type of epilepsy, Nature Genetics 15 (1997), 393-6; Nature 386 (1997), 767-9; also AJMG 74 (1997),150-3; Lancet 349 (1997), 626.
Atherosclerosis and infection may be related to genes, Suzuki H et al. "A role for macrophage scavenger receptors in atherosclerosis and susceptibility to infection", Nature 386 (1997), 292-6. On atrial fibrillation, NEJM 336 (1997), 951-2, 905-11; and hypertension, AJPH 87 (1997), 155-6, 160-8. On disease and DNA minisatellites Nature Genetics 15 (1997), 327-8. On obesity, Nature Genetics 15 (1997), 269-72, 273+; and diabetes, Lancet 349 (1997), 956-7. Genes and Fredreich's ataxia are discussed in NEJM 336 (1997), 1021-3; and prediction of the future of persons at risk by counting DNA triplet repeats is discussed in Lancet 349 (1997), 782.
Studies suggesting further links between Dopamine receptors and alcoholism are Chen, WJ. et al. "Dopamine D2 receptor gene and alcoholism among four aboriginal groups and Han in Taiwan", AJMG 74 (1997), 129-36; Kono, H. et al. "Association between early-onset alcoholism and the dopamine D2 receptor gene", AJMG 74 (1997), 179-82. A number of papers on bipolar disorder are in AJMG 74 (1997), 121-8, 137-9, 140-9, 176-8, 204-6.
A new gene for late onset Alzheimer's has been found, JAMA 277 (1997), 775, 793-9, 837-40; Neurology 48 (1997), 139-47. On APOE4 and Alzheimer's, AJMG 74 (1997), 202-3, 216-7; AJHG 60 (1997), 948-56; JAMA 277 (1997), 818-21, 822-4, 825-31. On neuropathology of mood, Nature 386 (1997), 769-70. A book review of Becoming Gay, is JAMA 277 (1997), 598-9; and on musical ability and math's, NS (15 March 1997), 17.
On cancer genes (see also Animal Genetic Engineering section), beta-catenin has been found to be an oncogene, Science 275 (1997), 1752-3, 1784-7, 1787-90, 1790-2; Nature 386 (1997), 623-7, 761-2; Steck, PA. et al. "Identification of a candidate tumour suppresser gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers", Nature Genetics 15 (1997), 356-62; PNAS 94 (1997), 2545-9; NS (29 March 1997), 19. On p53 mutations, NEJM 336 (1997), 734. Aging and ovarian cancer is reviewed in Lancet 349 (1997), 700-1; and on p53 and drug resistance in ovarian cancer, Lancet 349 (1997), 744-5. In general on cancer genetics, Nature Genetics 15 (1997), 221-2; AJHG 60 (1997), 469-73, 474-85, 751-4; Nature 386 (1997), 139-40; Science 275 (1997), 1796-800; JAMA 277 (1997), 467-71, 497-8. Studies on the incidence of BRCA1 prevalence are AJHG 60 (1997), 496-504, 505-14; JAMA 277 (1997), 533-4; JAMA 277 (1997), 963; Nature Genetics 15 (1997), 226. SV40 has been found in some cancers, Science 275 (1997), 748-9. On hox genes, Science 275 (1997), 1568.
A book review of Orel, V., Gregor Mendel. The First Geneticist (Oxford Univ. Press 1996) is in Science 275 (1997), 1438. Book reviews of The lac Operon. A Short History of a Genetic Paradigm (NY Hawthorne, 1996, 207pp.) are Science 275 (1997), 938; Nature 386 (1997), 235; and of the discovery of DNA, Nature 386 (1997), 344-5. A selective reduction in mutation rate of the X chromosome has been discovered, Nature 386 (1997), 388-92. In general on looking at genes and disease, TIG 13 (1997), 123; TIBTECH 14 (1996), 329-31; Science 275 (1997), 1327-30. Genetics of rhythms are in TIG 13 (1997), 111-5. A new study by the US Nat. Inst. Environmental health has began, as reported above in the Environmental section, an Environmental Genome Project, JAMA 277 (1997), 524.
Genes for rhizomelic chondrodysplasia punctata are reported in Nature Genetics 15 (1997), 369-384. The Collaborative Study on the Genetics of Asthma, "A genome-wide search for asthma susceptibility loci in ethnically diverse populations", Nature Genetics 15 (1997), 389-92; 227-9. An unstable minisatellite expansion is related to a type of epilepsy, Nature Genetics 15 (1997), 393-6; Nature 386 (1997), 767-9; also AJMG 74 (1997),150-3; Lancet 349 (1997), 626.
Atherosclerosis and infection may be related to genes, Suzuki H et al. "A role for macrophage scavenger receptors in atherosclerosis and susceptibility to infection", Nature 386 (1997), 292-6. On atrial fibrillation, NEJM 336 (1997), 951-2, 905-11; and hypertension, AJPH 87 (1997), 155-6, 160-8. On disease and DNA minisatellites Nature Genetics 15 (1997), 327-8. On obesity, Nature Genetics 15 (1997), 269-72, 273+; and diabetes, Lancet 349 (1997), 956-7. Genes and Fredreich's ataxia are discussed in NEJM 336 (1997), 1021-3; and prediction of the future of persons at risk by counting DNA triplet repeats is discussed in Lancet 349 (1997), 782.
Studies suggesting further links between Dopamine receptors and alcoholism are Chen, WJ. et al. "Dopamine D2 receptor gene and alcoholism among four aboriginal groups and Han in Taiwan", AJMG 74 (1997), 129-36; Kono, H. et al. "Association between early-onset alcoholism and the dopamine D2 receptor gene", AJMG 74 (1997), 179-82. A number of papers on bipolar disorder are in AJMG 74 (1997), 121-8, 137-9, 140-9, 176-8, 204-6.
A new gene for late onset Alzheimer's has been found, JAMA 277 (1997), 775, 793-9, 837-40; Neurology 48 (1997), 139-47. On APOE4 and Alzheimer's, AJMG 74 (1997), 202-3, 216-7; AJHG 60 (1997), 948-56; JAMA 277 (1997), 818-21, 822-4, 825-31. On neuropathology of mood, Nature 386 (1997), 769-70. A book review of Becoming Gay, is JAMA 277 (1997), 598-9; and on musical ability and math's, NS (15 March 1997), 17.
BRCA1 mutations occur in 5% of women who have ovarian cancer diagnosed before 70 years old, NEJM 336 (1997), 1125-30, 1448-9; and women with them may have a better chance of successful chemotherapy, NEJM 336 (1997), 1254-7. A series of papers on BRCA1 and BRCA2 frequencies are in AJHG 60 (1997), 1013-86. 2% of Ashkenazi Jews carry mutated alleles putting them at higher risk of breast, ovarian and prostrate cancer, NEJM 336 (1997), 1401-8; NatGen 16 (1997), 17-8. A review is Warmuth, MA. et al. "A review of hereditary breast cancer: from screening to risk factor modification", Amer. J. Med. 102 (1997), 407-15. Also on breast cancer, BMJ 314 (1997), 1736-9; Lancet 349 (1997), 1488, 1505-10, 1523; NatGen 16 (1997), 64-7. Therapy using p53 is suggested in NatMed 3 (1997), 632-8.
Book reviews on cancer are Nature 387 (1997), 565-6; AJHG 60 (1997), 1258-60; and papers on cancer genetics, Cancer Nursing 20 (1997), 213-26; Science 276 (1997), 404-6, 531-5, 1023-4, 1268-72; NEJM 336 (1997), 1569-74; NatGen 15 (1997), 356-62; 16 (1997), 68-73; JAMA 277 (1997), 1431-2, 1580-1; Nature 387 (1997), 296-303; PTEN a new gene, Science 276 (1997), 1876-8, 1943-7; and on Bcl-2, NatMed 3 (1997), 614-20. Colon cancer genotypes change in two different ways, Nature 386 (1997), 623-7; Lancet 349 (1997), 968, 1151. Tumour suppression gene, patched, is reviewed in BBA Reviews on Cancer 1332 (1997), M43-52; APC tumor suppressor, BBA Reviews on Cancer 1332 (1997), F127-47; and the general contribution to myeloid leukemia in BBA Reviews on Cancer 1332 (1997), F67-104.
On abl and DNA repair, Nature 387 (1997), 450-1; mutations, Nature 387 (1997), 135-6; and circardian rhythms, Nature 387 (1997), 554-5; Science 276 (1997), 753-4, 763-9, 1030-1; and apoptosis, Nature 387 (1997), 123-6. Report on mammalian maps are Bassett, DE. et al. "Genome cross-referencing and XREFdb: Implications for the identification and analysis of genes mutated in human disease", NatGen 15 (1997), 339-44; Mitelman, F. et al. "A breakpoint map of recurrent chromosomal rearrangements in human neoplasia", NatGen Special Issue 15 (April 1997), 417-74, 415-6.
Twin studies show genetic links to cognition, McClearn, GE et al. "Substantial genetic influence on cognitive abilities in twins 80 or more years old", Science 276 (1997), 1560-3, 1522-3. On IQ, Science 276 (1997), 1651; NatGen 16 (1997), 15; and behaviour, NS (7 June 1997), 49; AJHG 60 (1997), 1265-75; Berns, GS et al. "Brain regions responsive to novelty in the absence of awareness", Science 276 (1997), 1272-5. Anxiety is also related, Science 276 (1996), 1527-31. Some boxers are predisposed to suffer brain damage after blows to the head, NS (17 May 1997), 4. Drosophila flies also can get drunk from alcohol, and are being used for genetic studies on alcohol, NS (19 April 1997), 20. A study finding no association between dopamine D3 and D4 receptor genes and alcoholism are AJMG 74 (1997), 281-5. Papers on bipolar disorder genetic searches of the NIMH Genetics Initiative are AJMG 74 (1997), 227-69. On schizophrenia, AJMG 74 (1997), 275-80, 319-30, 338-41; Lancet 349 (1997), 1730-4; and autism, AJHG 60 (1997), 1276-82; Science 276 (1997), 905, 1487; and mood disorders, AJHG 60 (1997), 1283-8. A protein interaction with Huntingtin has been found in yeast, NatGen 16 (1997), 44-53. The mice gene, minibrain, is implicated in learning defects of Down's syndrome, NatGen 16 (1997), 28-36. Inherited myocloun epilepsy is caused by unstable microsatellite expansion, NatGen 15 (1997), 393-6.
A short precursor for beta-amyloid precursor protein means less memory, and it is involved in Alzheimer's disease, Nature 387 (1997), 457-8. On presenilin 1 gene function, Nature 387 (1997), 288-92; and Alzheimer's, Lancet 349 (1997), 1546-9; Science 276 (1997), 676-7, 682. Antioxidants may slow it down, Lancet 349 (1997), 1300; NEJM 336 (1997), 1216-22. Apolipoprotein E is discussed in Lancet 349 (1997), 1143, 1174, 1451; BMJ 314 (1997), 1411-12; and genetic haemochromatosis, Lancet 349 (1997), 1688-93.
Some organophosphate pesticides used by sheep farmers may weaken the bones of farmers, NS (24 May 1997), 6. The tendency to abuse heroin may be linked to the dopamine D4 receptor, NS (3 May 1997), 17; Molecular Psychiatry 2 (1997), 251+.
Studies on mice find the environment can cause lasting changes on the genes, NS (19 April 1997), 16; and on genetic imprinting involved in Turner's syndrome, Nature 387 (1997), 652-3, 705-8. On Fragile X syndrome, JAMA 277 (1997), 1169; hypertension genetics, BMJ 314 (1997), 1258-61; Lancet 349 (1997), 1602-3; Nature 387 (1997), 414-7; asthma, NatGen 16 (1997), 389-92; muscular dystrophy, Science 276 (1997), 35; retinopathies, Cellular & Molecular Life Sciences 53 (1997), 419-29; renal cyst formation may include two genes, Lancet 349 (1997), 1039-40; JAMA 277 (1997), 1293-8. Diabetes is being studied in a US-African project, Science 276 (1997), 187; but a Danish study suggests it is more environmental, BMJ 314 (1997), 1575-9; Lancet 349 (1997), 1626. The insulin gene VNTR regulatory polymorphism is linked with polycystic ovary syndrome, Lancet 349 (19979), 86-90, 1771.
The Y specific growth gene promotes sex steriod levels which make boys grow taller, JMG 34 (1997), 323-5. Genes related to bone mass are reviewed in AJHG 60 (1997), 1309-11; Science 276 (1997), 1502. A gene related to fatness in humans is Montague CT. et al. "Congenital leptin deficiency is associated with severe early-onset obesity in humans", Nature 387 (1997), 903-8; and the crystal structure of leptin-E100 is in Nature 387 (1997), 206-9.
A paper on consanguinity in Israeli Arab families is AJMG 70 (1997), 346-8; and in Pakistan, Ann. Human Genetics 61 (1997), 143-9. On inbreeding, J. Heredity 88 (1997), 169-78. Genetics studies in Iceland are making use of close breeding, NS (13 May 1997), 12. PKU deficiency can be controlled by diet, Biochemical & Molecular Medicine 60 (1997), 92-101; and on PKU and parenting, JAMA 277 (1997), 1105.
Twin studies have show again that genes do play a major role in intelligence, Devlin, B. et al. "The heritability of IQ", Nature 388 (1997), 468-71, 417-8; NS (14 June 1997), 16. The Plomin study involved 240 pairs of Swedish twins, 110 of them identical, all over 80 years of age and mentally alert. Devlin et al review 212 previous studies and suggest maternal effects rather than family, and they account for 20% of the variance between twins and 5% between siblings. The put the genes at 50%.
Linkage of ApoE to Alzheimer's in a large family is reported in AJMG 74 (1997), 365-9. An immune system gene, HLA-A2 is also linked to the disease, Neurology (August 1997). ApoE4 is associated with chronic traumatic brain injury in boxing, JAMA 278 (1997), 136-40. Studies on presenilin 1 are reviewed in NatMed 3 (1997), 723-5. A study of genetic markers for linkage to alcoholism, substance abuse and schizophrenia in Southernwestern American Indians is in AJMG 74 (1997), 386-94.
A gene for Parkinson's disease has been found, Polymeropolous MH. et al. "Mutation in the alpha-synuclein gene identified in families with Parkinson's disease", Science 276 (1997), 2045-7, 1973; Nature 388 (1997), 232-3. Also on Parkinson's and the genetic complexity, Science 277 (1997), 387-90; PNAS 94 (1997), 4890-4. A conference report suggesting that schizophrenia is linked to language is Nature 388 (1997), 424-5; and a study of intelligence and Huntington's disease risk, JMG 34 (1997), 564-8. On genetics and behavior, PNAS 94 (1997), 2785-6.
Solid stress inhibits the growth of multicellular tumors, NatBio 15 (1997), 778-83. As discussed in the section on Recombinant DNA Products, estrogen can be used to treat breast cancer, but the doses depend on receptor status, BMJ 314 (1997), 1843-4. BRCA1 has been found to be a component of RNA polymerase II holoenzyme, PNAS 94 (1997), 5605-10; a cell cycle regulated nuclear phoshoprotein, PNAS 94 (1997), 7138-43. On the risks of breast cancer genes, NatGen 16 (1997), 210-1, 298-302; PNAS 94 (1997), 6380-5; JAMA 277 (1997), 1869-90, 276 (1997), 289-90; NatMed 3 (1997), 709, 721-2; Lancet 349 (1997), 1784-5; and of other cancer genes, PNAS 94 (1997), 2776-8; BMJ 314 (1997), 1882-5, 315 (1997), 77; J. Natl. Cancer Inst. 89 (1997), 932-8; Lancet 350 (1997), 91-5. p53 deficiency does not affect apoptosis after DNA damage, FASEB J 11 (1997), 591-9. Kaposi's sarcoma-associated herpesvirus appears to drive bone marrow cancer multiple myeloma from neighbouring cells, not the tumor cells themselves, Science 276 (1997), 1788-9. On radiation and stress-induced apoptosis, PNAS 94 (1997), 5750-5.
As discussed in the Disease Risks section, two genes for human obesity are identified, endopeptidase. prohormone convertase 1, and leptin, NatGen 16 (1997), 218-20; 303-6; PNAS 94 (1997), 4242-5, 7526-30. Homocysteine is closely linked to heart disease and is easy to treat, Graham IM. et al. "Plasma homocysteine as a risk factor for vascular disease", JAMA 277 (1997), 1775-81; Time (4 August 1997), 65. Angiopoietin-2 disrupts angiogenesis, Science 277 (1997), 55-60; also on heart disease, PNAS 94 (1997), 6541-6. On genetic testing for hypertension, NEJM 337 (1997), 202-3; Lancet 350 (1997), 35. A series of papers on diabetes are in a supplement to Lancet 350 (July 1997), 1-32.
Vitamin D receptors predict bone density in girls, Sainz J. et al. "Vitamin D-receptor gene polymorphisms and bone density in prepubertal American girls of Mexican descent", NEJM 337 (1997), 77-82, 125-6. A review of mitochondrial DNA is Wallace, DC "Mitochondrial DNA in aging and disease", SA (August 1997), 40-7. A gene for Niemaann-Pick C1 disease is reported in Science 277 (1997), 228-325. A gene, clock, for circadian rhythms has been identified, Cell 89 (1997), 487-90, 641-53, 655-67; 90 (1997), 9-12.
The gene causing Friedreich's ataxia is studied in Nature Genetics 16 (1997), 345-51, 352-7. One X-linked mental disease has been found only expressed in women, NS (30 Aug. 1997), 9.
The role of a retrovirus in diabetes is explored in Nature 388 (1997), 833-4. The tuberous sclerosis gene has been identified, Science 277 (1997), 805-8. The molecular basis of familial hypercholesterolaemia is related to calcium binding, Nature 389 (1997), 691-3. Polymorphism in the gene for microsomal epoxide hydrolase is related to susceptibility to emphysema, Lancet 350 (1997), 630-3. On sickle cell disease, NEJM 337 (1997), 762-6; Lancet 350 (1997), 725-30. Genes for retinitis pigmentosa may be fixed to give sight in the future, NS (4 Oct. 1997), 6. Black persons are at higher risk of developing end stage renal disease than whites even when blood pressure is monitored, Lancet 350 (1997), 787.
On genetic drift, AJMG 72 (1997), 1-2; and epigenetics, TIG 13 (1997), 293-339. Splicing regulation is involved in human disease, AJHG 61 (1997), 259-66. On trinucleotide repeats and anticipation, Lancet 350 (1997), 459-60.
More tumour suppressor genes are being found, NatMed 3 (1997), 320-2; Nature 389 (1997), 122-3; Science 277 (1997), 1450-1, 1605-6; Lancet 350 (1997), 638-9; NEJM 337 (1997), 529-34. On risk of breast cancer in BRCA carriers, NEJM 337 (1997), 787-9. Disruption of p21 gene can bypass senescence, Science 277 (1997), 831-4; and life span can be regulated in C. elegans by an insulin-receptor like gene, Science 277 (1997), 897-8, 942-6; see also Euthanasia section on apoptosis. Somatic mutations of p53 are involved in rheumatoid arthritis, PNAS 94 (1997), 10895-900. An Internet guide to cancer genes is being made, Science 277 (1997), 762.
Schizophrenia genetics are reported in AJMG 74 (1997), 472-4, 526-8, 546-8; and therapy in NEJM 337 (1997), 851-2; Science 277 (1997), 900. On the alcoholism genetic linkage with dopamine transporter, AJMG 74 (1997), 480-2; and novelty seeking, Sanfer, T. et al. "Dopamine D4 receptor exon III alleles and variation of novelty seeking in alcoholics", AJMG 74 (1997), 483-7. A Japanese study found genetic variation for novelty seeking, AJMG 74 (1997), 501-3. Another study reports serotonin gene regulatory region polymorphism may be related to anxiety-related traits, AJMG 74 (1997), 544-5. A gene for a cell signaling protein, dg2, makes fruit flies roam, Science 277 (1997), 763-4.
HLA-A2 gene has been linked to onset time of Alzheimer's disease, Science 277 (1997), 1441; Lancet 350 (1997), 568. On amyloid, Nature 389 (1997), 677-8, 689-95. The molecular basis of Huntington's disease has been found as reported last issue, Cell 90 (1997), 537-8; Neuron 19 (1997), 333-44; BMJ 315 (1997), 446. Epilepsy may be due to too many connections in the brain, NatMed 3 (1997), 957-8. The function of frataxin in the mitochondria, the gene
A single gene, Ras-GRF, appears to give mice the ability to remember terrifying experiences, NS (22 Nov 1997), 6. On the study of complex traits, NatGen 17 (1997), 387-97. Italy has established the world's largest twin registry, NatMed 3 (1997), 1176. Genes and hormones both affect behaviour, PNAS 94 (1997), 14213-6. A report from a consensus conference held in August 1995 by the American College of Medical Genetics is Curry, CJ. et al. "Evaluation of mental retardation: recommendations of a consensus conference", AJMG 72 (1997), 468-77. Reports from the Vth World Congress of Psychiatric genetics are in AJMG 74 (1997), 555-680 (No. 6). A gene for slow acetylator genotype N-acetyltransferase 2 has been linked to Parkinson's disease, Lancet 350 (1997), 1136-9. On genetics of left/right symmetry, NatGen 17 (1997),252-4. Huntingtin is required for neurogenesis, NatGen 17 (1997), 404-10; also on its location, Science 277 (1997), 1990-3. Regeneration in the central nervous system may be genetically controlled, NatMed 3 (1997), 1329-35. There are independent circadian clocks throughout Drosophila, Science 277 (1997), 1632-5, 1762. Letters on intelligence are in Science 278 (1997), 401-2, 1383-7.
ApoE4 may have some indirect affect to schizophrenia phenotype, Lancet 350 (1997), 930-1; but patients with ApoE4 are twice as likely to have unfavourable outcome 6 months after head injury, Teasdale, GM. et al. "Association of apolipoprotein E polymorphism with outcome after head injury", Lancet 350 (1997), 1069-71. Lack of ApoE reduces amyloid beta-peptide deposition, NatGen 17 (1997), 263-4. On genome wide searches for schizophrenia, AJMG 74 (1997), 556-65; and alcoholism, AJMG 74 (1997), 572-8. Two more genes for Alzheimer's have been found, JAMA 278 (1997), 1237-41; 1349-56; Lancet 350 (1997), 1149; NatGen 17 (1997), 254-6; and on a link to insulin resistance, BMJ 315 (1997), 1045-9. On genetic testing for Alzheimer's, JAMA 278 (1997), 978-9; 1363-71. Aggression may be linked to low heart beat, Science 278 (1997), 391.
Bone density seems to be determined by many genes, Lancet 350 (1997), 1263-4. A gene, ABCR, is responsible for fading eyesight of old age, Science 277 (1997), 1765-6. The gene CC16 has been linked to asthma, Lancet 350 (1997), 1008, 1113, 1149; and the beta2-adrenoceptor is related, Lancet 350 (1997), 995-9; see Supplement to Lancet 350 (Oct. 1997), Suppl. II, 1-27; and IL-9, PNAS 94 (1997), 13175-80. On the discovery of genes and secreted apoptosis-related proteins (SARPs) that regulate apoptosis, GEN 18 (Jan 1, 1998), 29; PNAS 94 (1997), 12736-7; Science 278 (1997), 407-24, 1246-7; BMJ 315 (1997), 1078-81; and a review is Banks, DA. & Fossel, M. "Telomeres, cancer, and aging. Altering the human life span", JAMA 278 (1997), 1345-8; Cell 91 (1997), 1-3. On macular degeneration, NatMed 3 (1997), 1196-7; diabetes, NatGen 17 (1997), 123-4; NatMed 3 (1997), 1080-1; JAMA 278 (1997), 1700; deafness, Science 278 (1997), 1223-4, 1315-8; obesity, Lancet 350 (1997), 1324-5; Science 278 (1997), 1641-4; lung disease and microsomal epoxide hydrolase, Lancet 350 (1997), 1553-4; heart disease, JAMA 278 (1997), 1749-54; NEJM 337 (1997), 1080-1; familial Mediterranean fever gene, NEJM 337 (1997), 1548-9; atropy and IL-4, NEJM 337 (1997), 1720-5, 1766-7; on epilepsy, JAMA 278 (1997), 883; notch3 mutations link to CADASIL, Lancet 350 (1997), 1490, 1511-5; chloride channel defects, NatGen 17 (1997),125-7.
Homologous recombination of a flanking repeat gene cluster is a mechanism for gene deletion, NatGen 17 (1997),154-63. DNA repair is essential for life, PNAS 94 (1997), 12754-7; Cell 91 (1997), 467-77. Trinucleotide repeats affect DNA replication in vivo, NatGen 17 (1997), 298-304; also on genetic disease, JMG 34 (1997), 876; JAMA 278 (1997), 1284-6. Molecular tests for FAP can be useful for surgical management, Lancet 350 (1997), 1777. On nursing and genetics, Nursing Outlook 45 (Sept 1997), 215-9; and doctor's literacy, JAMA 278 (1997), 1221-6.
A gene search has found 24 new BRCA1 mutations, Lancet 350 (1997), 1147; JAMA 278 (1997), 1242-50; NatGen 17 (1997), 247-8. On BRCA2, NatGen 17 (1997), 423-30. Weight also is a risk factor for breast cancer, JAMA 278 (1997), 1448-9; Lancet 350 (1997), 1101, 1332. On cancer genes, Lancet 350 (1997), 1223, 1723-8; BMJ 315 (1997), 1318-9; NEJM 337 (1997), 996-7; Science 277 (1997), 1948-9; 278 (1997), 120-3, 1035-77, 1226; NatGen 17 (1997), 130-1, 271-2; AJPH 87 (1997), 1779-87. Tumour suppressor genes, p33 and p53, work together to prevent cancer, Nature 391 (1998), 233-4, 295-8. French clinical guidelines for breast and colon cancer are discussed in practice in JAMA 278 (1997), 1591-5.
A call for consistent names is Nature Genetics 18 (1998), 89-90. The called hairless, has been found for a genetic disease causing complete body hear loss in the disease alopecia universalis is Nature 391 (1998), 537-8; Science 279 (1998), 720-4. A gene SPCH1 has been mapped for severe speech and language disorder, NatGen 18 (1998), 168-70; NS (31 Jan. 1998), 7. On attention deficit hyperactivity, Lancet 351 (1998), 429-33. Connexin-26 mutations are associated with deafness, Lancet 351 (1998), 383-4, 394-8, 415. Genes for musical pitch ability have also been found, NatGen 18 (1998), 96-7; and on mathematics ability, NS (10 Jan. 1998), 42-3. A potassium channel gene, KCNQ2 is involved in an inherited epilepsy, NatGen 18 (1998), 6-8, 25-9, 53-5; Science 279 (1998), 403-7. On heart disease, NatGen 18 (1998), 45-8; Lancet 351 (1998), 311-6; NEJM 338 (1998), 79-85, 86-93; Nursing Research 47 (1998), 11-8. diabetes, Lancet 351 (1998), 230-1; and cystic fibrosis, Lancet 351 (1998), 277-82; Ann. Hum. Gen. 61 (1997), 411-24. A gene for tremor has been found in DNA of Icelanders, SA (Feb 1998), 34. On mutations in PAX6 and aniridia, Human Mutation 11 (1998), 93-108.
On survival of breast cancer patients with BRCA1 mutations, Lancet 351 (1998), 304-5, 316-21. Human mutation rates are influenced MSH2 genes, PNAS 95 (1998), 1126-30. Leukemia cells can be traced back to birth, NatMed 4 (1998), 150-1. Also on cancer, Nature 391 (1998), 533-4, 707-10, 811-8; PNAS 95 (1998), 1131-5; NEJM 338 (1998), 192-4; Lancet 351 (1998), 42; TIG 14 (1998), 8-9; on genomic imprinting, AJHG 61 (1997), 1213-9; gene silencing, NatGen 18 (1998), 56-9; and methylation, AJHG 61 (1997), 1220-4. Radiation is often under used for palliation in cancer treatment, JAMA 279 (1998), 343-5; NEJM 338 (1998), 329-33.
Suicidal depression seems to run in families, NS (24 Jan. 1998). A -491A mutation in ApoE4 may increase expression of the gene resulting in increased risk for Alzheimer's, NatGen 18 (1998), 69-71; Lancet 351 (1998), 39. The gene is also related maybe to schizophrenia, Lancet 350 (1997), 1857-8. On Alzheimer's disease mechanism, Science 279 (1998), 174, 242-7; Nature 391 (1998), 339-40; MJA 167 (1997), 443-6; BMJ 316 (1998), 446-8. On triplet-repeat disorders, Lancet 351 (1998), 131-3; NatGen 18 (1998), 72-5; Science 279 (1998), 853-6; and repeated DNA sequences, NatGen 18 (1998), 5-6. On X-inactivation, NEJM 338 (1998), 325-7; PNAS 95 (1998), 719-24. The length of Huntingtin influences localization and frequency of intracellular aggregates, NatGen 18 (1998), 150-4; also on the disease diagnosis, MJA 167(1997), 463-4. A single mutation in the Wolfram-syndrome gene leads to a 26-fold increased risk of hospitalization for psychiatric disorders, Mol. Psychiatry 3 (1998), 86-9; Lancet 351 (1998), 190. On acetylator genotype and Parkinson's disease, Lancet 351 (1998), 141-2.
Polymorphism in the promoter region of inducible nitric oxide synthase gene protects against malaria, Lancet 351 (1998), 265. A mitochondrial genotype associated with long life has been found, Lancet 351 (1998), 185-6. Extension of human cell life has been made (see above), BMJ 316 (1998), 247; Science 279 (1998), 177, 334-5. A review of the role of apoptosis in human disease is JAMA 279 (1998), 300-7; on telomeres see also, Science 279 (1998), 34, 304-6; NS (24 Jan. 1998), 3; PNAS 95 (1998), 90-2; Laboratory Investigation 77 (1997), 547-55; TIG 14 (1998), 14-20. HUGO has opened a mutation database, Science 279 (1998), 10-1. On searching for genes in genomics, NatGen 18 (1998), 91-2; NEJM 338 (1998), 122-4. On sexual determination, JAMA 279 (1998), 268-9; Nature 391 (1998), 761+, 691-5; Natural History (Feb. 1998), 44-9; and the circadian clock, Science 279 (1998), 333-4.
Links between autism and aberrations of chromosome 15q are assessed in AJMG 76 (1998), 327-36; and schizophrenia and chromosome 15 in PNAS 95 (1998), 587-92. Serotonin transporter gene polymorphisms are not associated with susceptibility to mood disorders, AJMG 81 (1998), 1-3. A study on novelty seeking has not confirmed the earlier reported association with dopamine D4 receptor polymorphisms, AJMG 81 (1998), 44-8. A gene for deafness has been found, Science 279 (1998), 1870-1, 1950-4; Science News 153 (17 Jan 1998), 42-4. There has been a genetic link suggested between receptor cells in cochleas of ears in homosexual and heterosexual women, Science 279 (1998), 1639. On suicide risk and sexual orientation, AJPH 88 (1998), 57-60. Genes for absolute pitch are discussed in AJHG 62 81998), 221-3, 224-31.
Research into genetics of asthma and the development of therapies is reviewed in GEN 18 (1 March, 1998), 1, 37, 39, 41. Dutch researchers say they have discovered a gene linked to osteoporosis, called COLIA1, NEJM 337 (9 April 1998); and a gene has been found for one form of Parkinson's disease, Kitada, T. et al. "Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism", Nature 392 (1998), 605-8, 544-5; see also NatGen 18 (1998), 262+; Science 279 (1998), 116-7. Risks of recurrence in mental retardation are reviewed in JMG 35 (1998), 177-82.
A study on the anti-apoptosis gene, survivin and cancer is Lancet 351 (1998), 882-3. Dia