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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.

The proceedings of a 1998 Conference organized by the Galton Institute, Human Pedigree Studies has been published (117pp.). On cystic fibrosis gene mutations in chronic pancreatitis, NEJM 340 (1999), 1592-3. On cancer genetics, NEJM 340 (1999), 1424-6; PNAS 96 (1999), 4221-3, 4240-5; Lancet 353 (1999), 1379-80, 1437+; JAMA 281 (1999), 1395-400. Risk factors for BRACE/2 mutations are discussed in JMG 36 (1999), 369-73; Science 284 (1999), 723-5; NatGen 22 (1999), 10.

The chromosome workshop summaries from the 1998 World Congress of Psychiatric Genetics are in AJMG 88 (1999), 215-286. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation is reported in NatGen 22 (1999), 13-4. There may not be a link between alpha-2 macroglobulin and Alzheimer disease, NatGen 22 (1999), 1-2, 16-21: also, Nature 399 (1999), 204-7. Methods using combined linkage and linkage-disequilibrium analysis to map complex traits are discussed in AJMG 84 (1999), 433-53. On male attractiveness for women, Lancet 353 (1999), 1500. Schizophrenia is reviewed in Lancet 353 (1999), 1425-30; JAMA 281 (1999), 1877-8.

A COL1A1 gene polymorphism test kit is being developed to assess risk of bone fracture, GEN 19 (15 May 1999), 1, 32. On amyloid and fibrillogenesis, PNAS 96 (1999), 3342-4. Turning off the gene for protein tyrosine phosphatase-1B protects mice against obesity and type II diabetes, SA (June 1999), 16. Also on diabetes, Science 284 (1999), 886; Lancet 353 (1999), 1649-52.

The DRD4 allele appears to be linked to addictive behaviour and compulsive behaviour, AJMG 88 (1999), 358-68. On alcoholism, AJMG 88 (1999), 383-97. A paper arguing that there is no association between serotonin transporter gene polymorphisms and personality traits is AJMG 88 (1999), 430-6. A series of papers on X-linked mental retardation are in AJMG 85 (30 July 1999), 197-322. Schizophrenia genetics are discussed in AJMG 88 (1999), 291-3, 298-300, 311-23, 337-43, 348-57, 369-77, 407-10, 416-29; NEJM 341 (1999), 370-1. A single gene that causes familial British dementia has been found, BMJ 319 (1999), 74.The risk of dementia in Down syndrome is associated with ApoE genotype in a similar way to late onset Alzheimer's disease, AJMG 88 (1999), 344-7. On Alzheimer's disease, BMJ 319 (1999), 138-9; Time (2 August 1999), 53; and Parkinson's disease, BMJ 318 (1999), 1641-2. A series of papers on neurofibromatosis 1 are in AJMG 89 (26 March 1999), Seminars in Medical Genetics No. 1, 1-52. Polymorphism in high density lipoprotein paraoxonase gene is related to myocardial infarction, BMJ 319 (1999), 487-9. A gene has been linked to cardiac arrhythmia, Nature 400 (1999), 566+. On MHC and behaviour, Genetica 104 (1999), 189-273.The heparanase gene has been found which is related to cancer, NatMed 5 (1998), 735-6. A mutation for colorectal cancer predisposition is reported in JAMA 281 (1999), 2316-20. Also on cancer genetics, Nature 400 (1999), 29-30.Research on genetics of bone density is discussed in GEN 19 (15 June 1999), 1, 36, 48. The is association between ALOX5 promoter genotype and response to anti-asthma treatment, NatGen 22 (1999), 168-70. Tanger disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1, NatGen 22 (1999), 336-45, 347-51, 352-5. A 2.5% carrier rate has been detected for GJB2 mutations causing inherited deafness, JAMA 281 (1999), 2211-6. The antibiotic gentamicin may help ease muscular dystrophy by allowing the protein synthesis mechanism to ignore the mutant stop codon, NS (14 August. 1999). Environmental determination of a sexually selected trait is discussed in Nature 400 (1999), 358-9.

The question of genes and phenotype is discussed in Cohen, MM. & MacLean, RE. "Should syndromes be defined phenotypically or molecularly? Resolution of the dilemma", AJMG 86 (1999), 203-4. A general review on behaviour and genes is Nature Medicine 5 (1999), 1113-6; Science 284 (1999), 2096-7. Expansion of a 27 CAG repeat allele into a symptomatic Huntington disease-producing allele is reported in AJMG 87 (1999), 91-2. Alzheimers disease is not found to be associated with hypertension genetic risk factors PLA2 or G protein beta3, in AJMG 88 (1999), 465-8; see also Science 286 (1999), 916-9; BMJ 319 (1999), 1151; Nature 399 (1999), 739-40; AJHG 65 (1999), 7-12. Possible immunization is discussed in Science 285 (1999), 175-6. On lithium therapy, JAMA 281 (1999), 2271-2. Familial dementia is caused by polymerization of mutant neuroserpin, Nature 401 (1999), 376-9; and on familial British dementia, Nature 399 (1999), 776-81. A new IL-1 receptor gene is linked to X-linked mental retardation, Nature Genetics 23 (1999), 25+. ApoE4 is related to cognitive decline, JAMA 282 (1999), 40-6. Schizophrenia gene studies are reviewed in AJHG 65 (1999), 587-92.

The gene for staticism has been found, Hazan, J. et al. "Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia", Nature Genetics 23 (1999), 296+. On autism, AJMG 88 (1999), 472-5, 492-6; AJHG 65 (1999), 493-507; and bipolar affective disorder, AJMG 88 (1999), 527-32, 567-87; JMG 36 (1999), 585-94. Subtle chromosomal rearrangements have been linked to mental retardation, Lancet 354 (1999), 1676-81. A gene that promotes anxiety in mice has been found, Nature Medicine 5 (1999), 1131-2; Nature 401 (1999), 294-6. About 80% of familial persistent stutterers are male, AJHG 65 (1999), 1473-5. A gene is related to recall of memory in sleep, NS (30 Oct. 1999), 24. On genetics of Angelman syndrome, AJHG 65 (1999), 1-6. A review on monosomy 1p36 is JMG 36 (1999), 657-63. Phenylketonuria as an example of a complex monogenic disease is reviewed in TIG 15 (1999), 267-72. Eight genes have been linked to Batten’s disease, Lancet 354 (1999), 443-5. A gene for dominant retinitis pigmetosa is Nature Genetics 22 (1999), 248-54, 255+. SNPs related to blood pressure are described in Nature Genetics 22 (1999), 239-47. Genetic factors in septic shock are discussed in JAMA 282 (1999), 579-81.

Myriad company has claimed discovery of the gene for insulin dependent diabetes, GEN (15 Oct. 1999), 6, 59. The gene responsible for cholesterol abnormality, Tangler disease, has been discovered Science News (28 Aug 1999), 134. Also on ABC gene and cholesterol, Lancet 354 (1999), 1341-6, 1402-3; Science 285 (1999), 814-5. Exercise intolerance due to mutations in cytochrome b have found, NEJM 341 (1999), 1037-44. On mitochondrial mutations, Science 285 (1999), 664; PNAS 96 (1999), 10948-9; JMG 36 (1999), 425-36, 505-10. CD154 is required for progression of atherosclerosis, Nature Medicine 5 (1999), 1313+. On DiGeorge mutations, Nature 401 (1999), 335-7; Nature Medicine 5 (1999), 1120-1; and the gene for Rett syndrome, Nature Genetics 23 (1999), 127-8; Science News 156 (1999), 214; Science 285 (1999), 27. Polycystin-L is a calcium-regulated cation channel, Nature 401 (1999), 383-6. Sleep genes have been found in dogs, Science 285 (1999), 2076-7; Nature Medicine 5 (1999), 983; Nature Genetics 23 (1999), 3-4.

On breast cancer genes, Science 285 (1999), 1100-2; BMJ 319 (1999), 662; Lancet 353 (1999), 2043; 354 (1999), 1269; and cancer genes in general, Nature Genetics 23 (1999), 134-5, 253-4, 266-8, 348-53; Nature Medicine 5 (1999), 874-5, 989-90, 1129-30, 1164-70, 1239-40; Science 285 (1999), 531-7; BMJ 318 (1999), 1563; 319 (1999), 335, 1155; Lancet 354 (1999), 975-8, 2216; Nature 399 (1999), 734-6; 400 (1999), 401-2, 464-8; MJA 171 (1999), 284-5. A review is Lynch, HT. & Chapelle, ADL. "Genetic susceptibility to non-polyposis colorectal cancer", JMG 36 (1999), 801-18; and on screening techniques, JMG 36 (1999), 819-22. A chemical inhibitor of p53 protects mice from side effects of cancer therapy, Science 285 (10 Sept. 1999). A questionnaire to obtain family history of cancer is discussed in BMJ 319 (1999), 757-8. A gene study has linked iron with heart disease risk, Lancet 354 (1999), 1099. Dopamine D2 receptor gene is linked to stature, Ann. Hum. Genetics 63 (1999), 147-51. On beta-thalssemias, NEJM 341 (1999), 99-109; and hemochromatosis, NEJM 341 (1999), 718-24; 755-7.

A protein kinase that causes non-Mendelian inheritance has been found, Nature 401 (1999), 1415. The regulation of mutant genes is discussed in Nature 410 (199), 866-7; 402 (1999), 128-9, 187-81; PNAS 96 (1999), 12224-6. Tetraploidy has been found in a mammal, Nature 401 (1999), 341. Intron size and natural selection are discussed in Nature 401 (1999), 343-4. Genetic damage is reported in operating personnel exposed to isoflurane and nitrous oxide, Occup. Environ. Med. 56 (1999), 433-7. Chromosomal vulnerability to mutagens may run in families, Lancet 354 (1999), 226. A review is Aridor, M. & Balch, WE. "Integration of endoplasmic reticulum signaling in health and disease", NatMed 5 (1998), 745-51.

A Japanese study of 69 woman has found (confirmed) association with the long allele of dopamine receptor D4 and novelty seeking, and notes that this allele is uncommon in Japanese, Tomitaka, M. et al. "Association between novelty seeking and dopamine receptor D4 (DRD4) exon III polymorphism in Japanese subjects", AJMG 88 (1999), 469-71. Dopamine D3 and D4 do not appear to be linked to the symptomatology of major psychoses, AJMG 88 (1999), 476-80, 481-5, 486-91. A review on monoamine oxidase is AJHG 65 (1999), 593-8. Smarter children have menopause later, Science 285 (1999), 827.

The p66shc adaptor protein controls life span in mammals, Nature 402 (1999), 309-13. A genetic linkage to alcoholism is suggested for delta-opioid receptor allele, AJMG 88 (1999), 458-61, 462-4; also see AJMG 88 (1999),533-8, 590-1; AJHG 65 (1999), 599-605. Protection against alcoholism is described in AJHG 65 (1999), 795-807.

A study finding no evidence for involvement of dopamine D4 receptor gene in anorexia nervosa is AJMG 88 (1999), 594-7. Results of a genome screen for autism are in AJMG 88 (1999), 609-15, 729-32. Schizophrenia genetics is in AJMG 88 (1999), 686-704, 724-8. Genetic links to alcoholism are discussed in AJMG 88 (1999), 634-41, 676-85; NS (27 Nov. 1999), 38-43. The identity of one of the secretases involved in Alzheimer's disease has been found, Nature 402 (1999), 471-2, 533-40, 588-9; Science 286 (1999), 735-41; Time (1 Nov. 1999), 50; (29 Nov. 1999), 61.

HUM-MOLGEN has developed a molecular diagnostic registry database (SOM-MUT) to offer on-line searches for laboratories offering molecular diagnostic tests for somatic mutations/alterations. This service is complementary and cross-linked to, but independent from, Helix (http://www.hslib.washington.edu/helix/), the registry for laboratories offering germ line mutations. After the first 4 months of activity they have expanded this activity to labs outside Europe and North America. See the general page of SOM-MUT (http://opus.cilea.it/som-mut/);or else contact Dr. Nenad Blau Email: blau@kispi.unizh.ch.

Population choice in mapping genes for complex diseases and ethnic groups are discussed in Nature Genetics 23 (1999), 397-404; TIG 15 (1999), M17-20. Sickle cell anemia is discussed in Science 286 (1999), 1488-9. On cancer genes, Science 286 (1999), 1832-4, 2096-7, 2256-8; AJHG 65 (1999), 1779-82; Time (8 Nov. 1999), 58-60; JMG 36 (1999), 873-80; TIG 15 (1999), M57-60. Carriers of BRCA1 and BRCA2 who have children are significantly more likely to develop breast cancer by the age of 40 than those who do not, Lancet 354 (1999), 1846-50.

The question of whether research on rare genetic diseases is a good use of funds is asked in Lancet 354 (1999), 1798. Perforin gene defects are involved in familial hemophagocytic lymphohistocytosis is Science 286 (1999), 1957-9. Mutatons in COL11A2 cause non-syndromic hearing loss, Nature Genetics 23 (1999), 413-9. A new anion transporter gene has been found to be mutated in sialic acid storage diseases, Nature Genetics 23 (1999), 462-5. Genes and periodic fevers are discussed in a workshop report in Lancet 354 (1999), 2141. Genetics plays a role in otitis media, JAMA 282 (1999), 2167-8; and in osteoporotic fractures, BMJ 319 (1999), 1334-7.

Sex determination genes are conserved, see Nature 402 (1999), 601-2. On the Y chromosome, Lancet 354 (1999), 1746-7. The evolutionary rate of a gene is affected by chromosomal position, Current Biology 9 (1999), 987-9. Studies on mutation rate in hemophilia B are described in AJHG 65 (1999), 1572-87. A gene that alters inheritance has been found, Science 286 (26 Nov. 1999).

A report from the HUGO Mutation database initiative is Human Mutation 15 (2000), 4-6. The association of genetic polymorphisms with complex diseases is discussed in Lancet 355 (2000), 308-11; PNAS 97 (2000), 2-3. There may need to be several hundred kindreds (genetic families) studied to identify the bipolar affective disease genes, AJHG 66 (2000), 205-15. A book review on genetic disorders of human sexual development is NEJM 342 (2000), 362-3. A study of 500 cases and 6000 controls found no link between angiotensin-converting enzyme and myocardial infarction, Lancet 355 (2000), 434-42.

On Alzheimer disease, AJHG 66 (2000), 196-204. There are elevated levels of the mRNA from MBR1 in Fragile X males, AJHG 66 (2000), 6-15. On Huntington's disease, Nature 403 (2000), 495-6, 544-9. Early studies of genetic disease are discussed in Lancet 354 (1999), Supplement 2000, 21. A group to target the gene to prevent atherosclerosis, BMJ 320 (2000), 140. On ACE gene, Nature 403 (2000), 614.

Dominant negative mutations in human PPARgamma are associated with diabetes and hypertension, Nature 402 (1999), 860-1, 880-3. The apoE genotype is a predictor of intracerebral hemorrhage, NEJM 342 (2000), 240-5. On multiple sclerosis, NatMed. 6 (2000), 15-6; autism, SA (Feb. 2000), 56-63; and CF, PNAS 97 (2000), 1172-7. A review of mitochondrial and nuclear encoded mutations in mitochondrial respiratory chain disorders, Lancet 355 (2000), 299-304; 389-94. A spastic ataxia ARSACS has been found to be caused by a new gene, Nature Genetics 24 (2000), 120-5. Mutations in SDHD are important in hereditary paraganglioma, Science 287 (2000), 848-51. Cancer genetics is discussed in NEJM 342 (2000), 69-77, 124-5; TIG 16 (2000), 69-75;Lancet 355 (2000), 121; PNAS 97 (2000), 1236-41. There are gains from prevention in persons at risk from breast cancer, Schrag, D. et al. "Life expectancy gains from cancer prevention stratetegies for women with breast cancer and BRCA1 or BRCA2 mutations", JAMA 283 (2000), 617-24. The incidence of cancer in Down syndrome persons helps understanding of the role of cancer genes on chromosome 21, Lancet 355 (2000), 165-9.

Mediating mismatch repair is reviewed in Nature Genetics 24 (2000), 6-7. Methylation is discussed in Nature Genetics 24 (2000), 101-2. Telomerase prevents the accelerated cell aging of Werner syndrome fibroblasts, Nature Genetics 24 (2000), 16-7. A general forecast on the future of genetics is Human Mutation 15 (2000), 2-3.

A review on assessing the risks of breast cancer is NEJM 342 (2000), 564+. Phosphylation of BRCA1 regulates the DNA damage response, Nature 404 (2000), 201-4. On p53, Science 287 (2000), 1765-6; Nature 404 (2000), 24-5, 42-9; Nature Cell Biology 2 (2000), E48-50. Interleukin-1 polymorphisms are associated with risk of gastric cancer, Nature 404 (2000), 398-402. A review of detecting low penetrance genes in cancer is JMG 37 (2000), 161-7.Breast cancer guidelines in Australia are discussed in MJA 172 (2000), 196-7. Use of stem cells for breast cancer therapy is discussed in NEJM 342 (2000), 1069-76; Lancet 355 (2000), 942-5, 999+, 1101+. In general on genetics and cancer, Lancet 355 (2000), 669-70, 716-9, 925; Pharmacogenetics 10 (2000), 25-33; BMJ 320 (2000), 424-7, 474-9; Int. J. Cancer 89 (20 March 2000), 105-202. Cancer research decisions in the UK are being examined by a Parliamentary committee, NatMed. 6 (2000), 360-1. On needs of patient information, BMJ 320 (2000), 909-13.

Presenilin mutants subvert chaperone function, Nature Cell Biology 2 (2000), E21-23. A study of apolipoprotein E and cognitive performance is Nature 404 (2000), 352-3. A review of Alzheimer’s is Newsweek (20 March 2000), 46-51. Classification of dementias is discussed in Lancet 355 (2000), 626. Research on Alzheimer’s is related to aging also, Nature 404 (2000), 120-1. On genetics and aging, Science 287 (2000), 2390, 2486-92; NS (1 April 2000), 4; JMG 37 (2000), 83-7; Nature Cell Biology 2 (2000), E23-4. Men are twice as likely to develop schizophrenia, Science 287 (2000), 2145; Lancet 355 (2000), 614-7. P300 is a state and trait marker in schizophrenia, Lancet 355 (2000), 771-2. A review of genetic studies in schizophrenia is NatMed. 6 (2000), 253-5.

25-hydroxycholecalciferol deficiency may lead to higher tuberculosis rate in Gujaratis, Lancet 355 (2000), 588, 618-21. The role of NAT2 deficiency in susceptibility to lung cancer in asbestos-exposed persons is discussed in Pharmacogenomics 10 (2000), 183-5. NPHS2 is mutated in autosomal recessive steriod-resistant nephrotic syndrome, Nature Genetics 24 (2000), 349-54. Risk factors for diabetes are discussed in NEJM 342 (2000), 905-12, 968-70.A review of inherited anaemias is Lancet 355 (2000), 1169-75. Thalassemia in Sri Lanka is reviewed in Lancet 355 (2000), 786-91. A review on genetics of hearing loss is NEJM 342 (2000), 1101+. On cytochrome P450 enzymes in the heart, Lancet 355 (2000), 945-6. Training of genetics in medicine is discussed in J. Molecular Diagnostics 1 (1999), 3-4. An obituary of James V. Neel is AJHG 66 (2000), 755-60.

Association studies of genetic polymorphisms and complex disease are discussed in Lancet 355 (2000), 1277-8; TIBTECH 18 (2000), 22-6. A book review of Segal, NL. Entwined Lives: Twins and what they tell us about human behavior (Dutton Books, 1999, 416pp.) is NEJM 342 (2000), 902. A series of papers on sex determination and differentiation in humans is AJMG 89 (1999), 175-248. The dangers of genes that turn expression on or off are in NS (March 2000), 28-31. Genetic repair is reviewed in Nature Genetics 24 (2000), 325-6; BioEssays 22 (2000), 396-401. Robustness against mutations in genetic networks of yeast is reviewed in Nature Genetics 24 (2000), 355-61. DNA defects often target the centromere, Nature Cell Biology 2 (2000), E28-9.

Several genes regulate serum IgE levels, found in families with asthma, AJHG 67 (2000), 1163-73. A major susceptibility locus for atopic dermatitis maps to chromosome 3q21, NatGen 26 (2000), 470-3. Persons with PKU need to follow the special diet throughout their life, JAMA 284 (2000), 2445. A point mutation in PTPRC is associated with the development of multiple sclerosis, NatGen 26 (2000), 495-9. On genes for twinning, Science 290 (2000), 1065-6. HE1 is a second gene of Niemann-Pick C disease, Science 290 (2000), 2298-302.

A genetic marker for esophageal cancer is reported in GEN 20 (Dec. 2000), 101. Tamoxifen reduces chance of breast cancer in women with BRCA1 and BRCA2 mutations, Lancet 356 (2000), 1876-81. On early treatment of breast cancer, JAMA 284 (2000), 2707-8. A novel zinc finger protein, ZBRK1 has been linked to the mechanism of BRCA1, NatMed. 6 (2000), 1318-9. Breast cancer is not just whether but also when, NatGen 26 (2000), 390-1, 411-4. On breast cancer, NEJM 343 (2000), 1566-8; Nature 408 (2000), 429-33. A review of the genetics of prostrate cancer is AJHG 67 (2000), 1367-75; PNAS 97 (2000), 12216-21. On lung cancer and p53, PNAS 97 (2000), 12244-9. p53 is discussed in Nature 408 (2000), 307-10.; Methylation of the MGMT is a predictor of the responsiveness of gliomas to alkylating agents, NEJM 343 (2000), 1350-4; Nature 409 (2001), 141-4. Leukemia treatment also depends on genetic markers, NEJM 343 (2000), 1910-6. Patients with less insurance in the USA die sooner from cancer, AJPH 90 (2000), 1746-54.

Genetic factors related to thrombosis in pregnancy are discussed in Am.J.O&G.< 183 (2000), 1271-7; AJHG 67 (2000), 1452-9. Genes related to diabetes are identified in AJHG 67 (2000), 1174-85, 1186-200. Hereditary catalase deficiencies have increased risk of diabetes, Lancet 356 (2000), 1820-1. Worldwide genetic analysis of CFTR is reported in AJHG 67 (2000), 103-17. Genetics of preeclampsia is discussed in Lancet 357 (2001), 53-6. Mutations in sarcomere protein genes cause dilated cardiomyopathy, NEJM< 343 (2000), 1688-96. The question of how SOD1 mutants cause ALS is discussed in NatMed. 6 (2000), 1320-1.

Analysis of the polycystic kidney disease is reported in AJHG 67 (2000), 46-63. On mitochondrial genetics, TIBS 25 (2000), 555+. Analysis of complex genetics is discussed in Lancet 356 (2000), 1662; BMJ 321 (2000), 1117-20; Epidemiologic Reviews 22 (2000), 120-5; NatGen 26 (2000), 395; NS (9 Dec. 2000), 16-7. A review on DNA damage response is Nature 408 (2000), 433-9. Predisposition for a long life may be shared by family members, J. Amer. Geriatrics Society 48 (2000), 1483-5; BMJ 321 (2000), 1245. On aging, PNAS 97 (2000), 12407-8. In general on genetics in medicine, NEJM 343 (2000), 1496-9.

The gene FOXL2 may be linked to premature ovarian failure, Nature 409 (2001), 159-66; Lancet 357 (2001), 367. Mutations in a circadian rhythm clock gene in humans may cause familial advanced sleep syndrome, Science 291 (2001), 226-7. Polymorphisms in Factor VII gene and the risk of myocardial infarction are discussed in NEJM 344 (2001), 458-9; and polymorphisms in growth factor-beta1 gene and bone mineral density, JAMA 285 (2001), 167-8. On the genetics of hemostasis, Lancet 357 (2001), 83-4, 101-5. A sodium channel mutation causes isolated cardiac conduction disease, Nature 409 (2001), 1043-7. Diabetes is discussed in Nature 409 (2001), 672-3. Resistin is a hormone linking obesity with type 2 diabetes, BMJ 322 (2001), 193.

Mutations in DJ-1 gene associated with cellular resistance to oxidants are also associated with early onset Parkinsonism, Science 299 (2003), 256-9. Cancer genetics is discussed in JAMA 288 (2002), 1657-8. The BRCA2 complex with RAD51 has lessons for DNA recombination, Nature 420 (2002), 287-93. An atherosclerosis gene is linked to susceptibility to prostrate cancer, Lancet 360 (2002), 928.

A genome-wide deleterious mutation would favour species integrity, Heredity 89 (2002), 253-7. A gene for cleft lip has been found, NS (17 Sept., 2002), 16. ADAM-33 is a asthma gene, NEJM 347 (2002), 936-8.

On eating and genes, Branson, R. et al. "Binge-eating is a major phenotype of melanocortin 4 receptor gene mutations", NEJM 348 (2003), 1096-103; Farooqi, IS. Et al. "Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene", NEJM 348 (2003), 1085-95. Grey-lethal mutation induces osteoporosis in mice and humans, NatMed. 9 (2003), 399-406. Genetics of emphysema is discussed in Nature 422 (2003), 169+. Bacterial infections in humans with IRAK-4 deficiency reveals the pathway is important for some infections, Science 299 (2003), 2076-9. On genes in Alzheimer's disease and Parkinson's disease, NEJM 348 (2003), 1356-64. Loss of IGF2 imprinting is a marker of colorectal cancer risk, Science 299 (2003), 1753-5. A link has been found between estrogen receptors and tumour growth, Lancet 361 (2003), 1444. Also on cancer genes, NEJM 348 (2003), 919-32.  On Down syndrome, Lancet 361 (2003), 1281-9.

On the evolutionary origin of complex features, Nature 423 (2003), 139-44. Dilated cardiomyopathy is caused by a mutation in phospholamban, Science 299 (2003), 1410. Genetic regulation of fibrin structure and function is associated with environmental interactions, Lancet 361 (2003), 1424-31. Also on genetic disease and myocardial infarction, NEJM 348 (2003), 1176-7. On genetics and epilepsy, NEJM 348 (2003), 1442-8. On schizophrenia, Science 299 (2003), 333-5.

The difficulties of elucidating genotypes for complex phenotypes are discussed in NatGen 33 Supplement (2003), 228-37; Nature Reviews 4 (2003), 309-14. MutatioNS in cytoskeletal protein filamin A cause diverse malformatioNS in humans, NatGen 33 (2003), 487-91. Sometimes the phenotypic features of genetic diseases are unclear for clinicians, NatGen 33 (2003), 440-2. Discussion of genes in cancer is in NS (23 Aug. 2003), 36-9; NatGen 34 (2003), 242-3, 308-12, 337-42, 353-4, 403-12; Human Mutation 22 (2003), 121-8; Lancet 362 (2003), 230-2. FAP is linked to mutations in MYH, Lancet 362 (2003), 5, 39-41. Reduced expression of VGEF is a risk factor for ALS, NatGen 34 (2003), 357+. PGC-1alpha is important for type 2 diabetes, NatGen 34 (2003), 244-2. Prevalence of myotonic dystrophy in Jewish communities in Israel is surveyed in AJMG 119A (2003), 273-8. A study of nephronophthisis and cilial dysfunction is NatGen 34 (2003), 355-6. The role of ancestral genetic data in genetic disease studies is discussed in Nature 424 (2003), 374. Genetics of circadian rhythm is reviewed in Science 301 (2003), 271, 277, 326-342. SCNM1 is a putative RNA splicing factor that modifies disease severity in mice, Science 301 (2003), 967-9. Mutation frequency is discussed in Science 301 (2003), 643-6. Genes for cortisone reductase deficiency are described in NatGen 34 (2003), 434-9. Longevity and hemochromatosis is discussed in BMJ 327 (2003), 132-3.

Papers on serotonin transporter genetics and behaviour are in Genes, Brain and Behaviour 2 (2003), 332-80. Techniques to map quantitative traits using multiple phenotypes are reported in Human Heredity 55 (2003), 1-26.

Obesity and genetics are discussed in Clin. Gen. 64 (2003), 380-1.

Two new asthma genes have been reported, Science 304 (2004), 185-7. Predisposition to abacavir hypersensitivity is conferred by HLA-B 5701 and a HSP70-Hom variant, PNAS 101 (2004), 4180-5. Endotoxin responsiveness is modified by human caspase-12 polymorphisms, Nature 429 (2004), 75-9.
A new oncogene PIG-U has been discovered in human bladder cancer, NatMed. 10 (2004), 374-81. Ascorbic acid corrects a mouse model of Charcot-Marie-Tooth disease, NatMed. 10 (2004), 396-401. There are functional brain abnormalities in young adults at genetic risk for Alzheimer disease, PNAS 101 (2004), 284-9. Both genetic and environmental factors modulate Huntington disease, as shown from Venezuelan kindreds, PNAS 101 (2004), 2498-503.

A new book is Keynes, M., et al., eds., A Century of Mendelism in Human Genetics (ISBN 0-415-32960-4, 161pp, 12 chapters, Galton Institute, CRC Press 2004. The question of whether former US president FDR had Guillain-Barre syndrome is discussed in Science 302 (2003), 981. There are multiple genes involved with coronary artery disease, Nature Reviews Genetics 5 (2004), 4.

A mutation in AKT2 has been linked to diabetes, Science 304 (2004), 1325-8. Two new asthma genes have been identified, Science 302 (2003), 185-6. Genetic variation in DLG-5 is associated with inflammatory bowel disease, NatGen 36 (2004), 476-80. s-Nitrosylation of Parkin regulates ubiquitination and alters its protective function, Science 304 (2004), 1328-31. On sex differentiation and identity, NEJM 350 (2004), 2204-6.

Mapping complex disease loci is reviewed in Nature 429 (2004), 446-52. Mental illness genes are being identified more, Science 302 (2003), 2039.

Mismatach repair for DNA damage signaling is discussed in NatGen 36 (2004), 432-4.  Epigenomics is reviewed in Nature Reviews Genetics 5 (2004), 446-55; and on epigenetic therapy, Nature 429 (2004), 457+.

On genetics of schizophrenia, NatGen 36 (2004), 674-5. Genetics of heart disease is discussed in Nature 429 (2004), 819-20; JAMA 291 (2004), 2969-77, 3008-10. Diseases related to heat shock proteins are discussed in NatGen 36 (2004), 547-8, 602+. On Huntingtin protein, NatGen 36 (2004), 553-4. The risk of developing a mitochondrial DNA deletion disorder is discussed in Lancet 364 (2004), 592-6.

Genetics of AHDH are discussed in AJMG 128B (2004), 84-9. Schizophrenia related genes are discussed in NatGen 36 (2004), 725-31; AJMG 128B, 129B (2004); NS (24 July 2004), 14; Nature Neuroscience 7 (2004), 575-80; PNAS 101 (2004), 12604-9. A review of cancer genes is NatMed. 10 (2004), 789-99; JMG 41 (2004), 421-4, 474-80. Maternal apoE genotype modifies Smith-Lemli-Opitz syndrome, JMG 41 (2004), 577-84. A review of genetic mutants is NS (12 June 2004), 32-5.