三个人类群体中常见DNA变异的全基因组模式。

Whole-genome patterns of common DNA variation in three human populations.

作者信息

Hinds David A, Stuve Laura L, Nilsen Geoffrey B, Halperin Eran, Eskin Eleazar, Ballinger Dennis G, Frazer Kelly A, Cox David R

机构信息

Perlegen Sciences Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA.

出版信息

Science. 2005 Feb 18;307(5712):1072-9. doi: 10.1126/science.1105436.

DOI:10.1126/science.1105436

PMID:15718463

Abstract

Individual differences in DNA sequence are the genetic basis of human variability. We have characterized whole-genome patterns of common human DNA variation by genotyping 1,586,383 single-nucleotide polymorphisms (SNPs) in 71 Americans of European, African, and Asian ancestry. Our results indicate that these SNPs capture most common genetic variation as a result of linkage disequilibrium, the correlation among common SNP alleles. We observe a strong correlation between extended regions of linkage disequilibrium and functional genomic elements. Our data provide a tool for exploring many questions that remain regarding the causal role of common human DNA variation in complex human traits and for investigating the nature of genetic variation within and between human populations.

摘要

DNA序列的个体差异是人类变异性的遗传基础。我们通过对71名欧洲、非洲和亚洲裔美国人的1,586,383个单核苷酸多态性（SNP）进行基因分型，描绘了常见人类DNA变异的全基因组模式。我们的结果表明，由于连锁不平衡（常见SNP等位基因之间的相关性），这些SNP捕获了大多数常见的遗传变异。我们观察到连锁不平衡的扩展区域与功能基因组元件之间存在强烈的相关性。我们的数据为探索许多关于常见人类DNA变异在复杂人类性状中的因果作用的遗留问题以及研究人类群体内部和群体之间遗传变异的性质提供了一个工具。