Neutral sequence variants and haplotypes at the 150 Kb ataxia- telangiectasia locus

American Journal of Medical Genetics

Volumn 86, Issue 2, 1999, Pages 140-144

  Airong, Li ^a   Huang, Ying ^a   Swift, Michael ^a  

^a NEW YORK MEDICAL COLLEGE   (United States)

Author keywords

Ataxia telangiectasia; Haplotype; Linkage disequilibrium; Mutation; Sequence variant; Single nucleotide polymorphisms

Indexed keywords

ARTICLE; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE DISORDER; CANCER SUSCEPTIBILITY; CAUCASIAN; CHROMOSOME POLYMORPHISM; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; HAPLOTYPE; HUMAN; ISCHEMIC HEART DISEASE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ALLELES; ATAXIA TELANGIECTASIA; DNA; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MUTATION; POLYMORPHISM, GENETIC; VARIATION (GENETICS);

EID: 0344562925     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990910)86:2<140::AID-AJMG10>3.0.CO;2-X     Document Type: Article

References (24)

1. Ad Hoc Committee on Mutation Nomenclature. 1996. Update on nomenclature for human gene mutations. Hum Mutat 8:197-202.
2. Athma P, Rappaport R, Swift M. 1996. Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 92:130-134.
3. Clark AG, Weiss KM, Nickerson DA, Taylor SL, Buchanan A, Stengard J, Salomaa V, Vartiainen E, Perola M, Boerwinkle E, Sing CF. 1998. Haplotype structure and population genetic interferences from nucleotide-sequence variation in human lipoprotein lipase. Am J Hum Genet 63:595-612.
4. Collins FS, Guyer MS, Chakravarti A. 1997. Variations on a theme: catologing human DNA sequence variation. Science 278:1580-1581.
5. Concannon P, Gatti RA. 1997. Diversity of ATM gene mutations detected with ataxia-telangiectasia. Hum Mutat 10:100-107.
6. Cooper DN, Smith BA, Cooke HJ, Niemann S, Schmidtke J. 1985. An estimate of unique DNA sequence heterozygosity in the human genome. Hum Genet 69:201-205.
7. Ford EB. 1965. "Genetic Polymorphism, 1st" ed. Cambridge, MA: The M.I.T. Press, p 11-16.
8. Jorde LB, Watkins WS, Viskochil D, O'Connell P, Ward K. 1993. Linkage disequilibrium in the neurofibromatosis I (NFI) region: implications for gene mapping. Am J Hum Genet 53:1038-1050.
9. Li AR, Huang Y, Athma P, Swift M. 1998. Mutation profile at the ataxiatelangiectasia locus. Am J Hum Genet 63(Suppl. 4):A21.
10. Meulenbelt I, Williams CJ, Te Koppele JM, van de Giessen GC, Slagboom PE. 1996. Population haplotype analysis and evolutionary relations of COL2A1 gene. Ann Hum Genet 60(Part 3):189-199.
11. Morral N, Bertranpetit J, Estivill I, Nunes V, Casals T, Gimenez J, Reis A, Varon-Mateeva R, Macek M Jr, Kalaydjieva L, Angelicheva D, Dancheva R, Romeo G, Russo MP, Gamerone S, Restagno G, Ferrrari M, Magani C, Claustres M, Desgeorges M, Schwartz M, Schwarz M, Dallapiccola B, Novelli G, Ferec C, de Arce M, Nemeti M, Kerm J, Anvret M, Dahl N, Kadasi L. 1994. The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nat Genet 7:169-175.
12. Morral N, Nunes V, Casal T, Chillon M, Gimenez J, Bertranpetit J, Estivill I. 1993. Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolution tracers. Hum Mol Genet 2:1015-1022.
13. Morrell D, Chase CL, Swift M. 1990. Cancer in 44 families with ataxiatelangiectasia. Cancer Genet Cytogenet 50:119-123.
14. Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravarti A. 1994. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung disease. Cell 79:1257-1266.
15. Risch N, Merikangas K. 1996. The future of genetic studies of complex human diseases. Science 273:1516-1517.
16. Sambrook J, Fritsch EF, Maniatis T. 1989. Molecular cloning: a laboratory manual, 2nd ed. New York: Cold Spring Harbour Laboratory Press. p 125-127.
17. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Sankhavaram RP, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NGJ, Taylor AMR, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y. 1995. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268:1749-1753.
18. Shattuck D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, Preuu D, Tavtigian SV, Teng DHF, Adey N, Staebell M, Gumpper K, Lundstrom R, Hulick M, Kelly M, Holmen J, Lingenfelter B, Manley S, Fujimura F, Luce M, Ward B, Cannon-Albright L, Steele L, Offit K, Gilewski E, Zoli W, Ravaioli A, Nevanlinna H, Pyrhonen S, Rowley P, Loader S, Osborne MP, Daly M, Tepler I, Weinstein PL, Scalia JL, Michaelson R, Scott RJ, Radice P, Pierotti MA, Garber JE, Isaacs C, Peshkin B, Lippman ME, Dosik MH, Caligo MA, Greenstein RM, Pilarski R, Weber B, Burgemeister R, Frank TS, Skolnick MH, Thomas A. 1997. BRCA1 sequence analysis in women at high risk for susceptibility mutations. JAMA 278:1242-1250.
19. Swift M, Chase C. 1983. Cancer and cardiac deaths in obligatory ataxiatelangiectasia heterozygotes [letter]. Lancet 1:1049-1050.
20. Swift M, Kupper LL, Chase CL. 1990. Effective testing of gene-disease associations. Am J Hum Genet 47:266-274.
21. Swift M, Morrell D, Massey RB, Chase CL. 1991. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Eng J Med 325:1831-1836.
22. Swift M, Reitnauer PJ, Morrell D, Chase CL. 1987. Breast and other cancers in families with ataxia-telangiectasia. N Eng J Med 316:1289-1294.
23. Vorechovsky I, Luo L, Dyer MJS, Catovsky D, Amlot PL, Yaxley JC, Foroni L, Hammarstrom L, Webster ADB, Yulle MAR. 1997. Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukemia. Nat Genet 17:96-99.
24. White MB, Amos J, Hsu JM, Gerrard B, Finn P, Dean M. 1990. A frame-shift mutation in the cystic fibrosis gene. Nature 344:665-667.