Статья

The evolution and population genetics of the<i>ALDH2</i>locus: random genetic drift, selection, and low levels of recombination

Hiroki OotaDepartment of Genetics, Yale University School of Medicine, 333 Cedar Street, PO Box 208005, New Haven, CT 06520-8005, USAA.J. PakstisDepartment of Genetics, Yale University School of Medicine, 333 Cedar Street, P.O. Box 208005, New Haven, CT 06520-8005, USABatsheva Bonné‐TamirDepartment of Human Genetics, Sackler School of Medicine, Tel Aviv University, Tel Aviv, IsraelDavid GoldmanLaboratory of Neurogenetics, National Institute of Alcohol Abuse and Alcoholism, Rockville, MD 20852, USAElena L. GrigorenkoDepartment of Psychology, Yale University, New Haven, CT 06520, USASylvester L.B. KajunaThe Hubert Kairuki Memorial University, Dar es Salaam, TanzaniaNganyirwa J. KaromaThe Hubert Kairuki Memorial University, Dar es Salaam, TanzaniaSelemani KunguliloMuhimbili University College of Health Sciences, Dar es Salaam, TanzaniaRu‐Band LuDepartment of Psychiatry, Tri-Service General hospital, National Defense Medical Center, Taipei, Taiwan, R.O.CKunle OdunsiDepartment of Gynecological Oncology, Roswell Park Cancer Institute, Buffalo, NY 14263, USAFriday OkonofuaDepartment of Obstetrics and Gynecology, Faculty of Medicine, University of Benin, Benin City, NigeriaО. В. ЖуковаN.I. Vavilov Institute of General Genetics RAS, Moscow, RussiaJudith R. KiddDepartment of Genetics, Yale University School of Medicine, 333 Cedar Street, P.O. Box 208005, New Haven, CT 06520-8005, USAKenneth K. KíddDepartment of Genetics, Yale University School of Medicine, 333 Cedar Street, P.O. Box 208005, New Haven, CT 06520-8005, USA

2004en

ABI

Аннотация

The catalytic deficiency of human aldehyde dehydrogenase 2 (ALDH2) is caused by a nucleotide substitution (G1510A; Glu487Lys) in exon 12 of the ALDH2 locus. This SNP, and four non-coding SNPs, including one in the promoter, span 40 kb of ALDH2; these and one downstream STRP have been tested in 37 worldwide populations. Only four major SNP-defined haplotypes account for almost all chromosomes in all populations. A fifth haplotype harbours the functional variant and is only found in East Asians. Though the SNPs showed virtually no historic recombination, LD values are quite variable because of varying haplotype frequencies, demonstrating that LD is a statistical abstraction and not a fundamental aspect of the genome, and is not a function solely of recombination. Among populations, different sets of tagging SNPs, sometimes not overlapping, can be required to identify the common haplotypes. Thus, solely because haplotype frequencies vary, there is no common minimum set of tagging SNPs globally applicable. The Fst values of the promoter region SNP and the functional SNP were about two S.D. above the mean for a reference distribution of 117 autosomal biallelic markers. These high Fst values may indicate selection has operated at these or very tightly linked sites.

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Идентификаторы

DOI: 10.1046/j.1529-8817.2003.00060.x

Цитирования и источники

Цитирований: 2Использованных источников: 0

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