313个人类基因中的单倍型变异与连锁不平衡

Haplotype variation and linkage disequilibrium in 313 human genes.

作者信息

Stephens J C, Schneider J A, Tanguay D A, Choi J, Acharya T, Stanley S E, Jiang R, Messer C J, Chew A, Han J H, Duan J, Carr J L, Lee M S, Koshy B, Kumar A M, Zhang G, Newell W R, Windemuth A, Xu C, Kalbfleisch T S, Shaner S L, Arnold K, Schulz V, Drysdale C M, Nandabalan K, Judson R S, Ruano G, Vovis G F

机构信息

Genaissance Pharmaceuticals, Inc., Five Science Park, New Haven, CT 06511, USA.

出版信息

Science. 2001 Jul 20;293(5529):489-93. doi: 10.1126/science.1059431. Epub 2001 Jul 12.

DOI:10.1126/science.1059431

PMID:11452081

Abstract

Variation within genes has important implications for all biological traits. We identified 3899 single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organized the SNPs into 4304 different haplotypes. Each gene had several variable SNPs and haplotypes that were present in all populations, as well as a number that were population-specific. Pairs of SNPs exhibited variability in the degree of linkage disequilibrium that was a function of their location within a gene, distance from each other, population distribution, and population frequency. Haplotypes generally had more information content (heterozygosity) than did individual SNPs. Our analysis of the pattern of variation strongly supports the recent expansion of the human population.

摘要

基因内的变异对所有生物学性状都具有重要意义。我们在来自82个不同血统的无关个体的313个基因中鉴定出3899个单核苷酸多态性（SNP），并将这些SNP组织成4304种不同的单倍型。每个基因都有几个在所有群体中都存在的可变SNP和单倍型，以及一些群体特异性的SNP和单倍型。成对的SNP在连锁不平衡程度上表现出变异性，这是它们在基因内的位置、彼此之间的距离、群体分布和群体频率的函数。单倍型通常比单个SNP具有更多的信息含量（杂合性）。我们对变异模式的分析有力地支持了人类群体近期的扩张。