Whole-genome patterns of common DNA variation in three human populations
Whole-genome patterns of common DNA variation in three human populations
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DOI：
10.1126/science.1105436
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发表时间：
2005-02-18
期刊：
影响因子：
56.9
通讯作者：
Cox, DR
中科院分区：
文献类型：
--
作者：
Hinds, DA;Stuve, LL;Cox, DR
DNA序列中的个体差异是人类变异性的遗传基础。我们通过基因分型在71名欧洲，非洲和亚洲血统的美国人中的1,586,383个单核苷酸多态性（SNP）来表征人类DNA变异的全基因组模式。我们的结果表明，由于连锁不平衡，这些SNP捕获了最常见的遗传变异，即常见SNP等位基因之间的相关性。我们观察到连锁不平衡的扩展区域与功能基因组元素之间存在很强的相关性。我们的数据为探索许多关于人类DNA变异在复杂人类特征中的因果作用以及研究人群内部和人群之间遗传变异的性质而存在的许多问题提供了一种伪善。
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 toot 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.