A worldwide survey of haplotype variation and linkage disequilibrium in the human genome
A worldwide survey of haplotype variation and linkage disequilibrium in the human genome
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DOI：
10.1038/ng1911
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发表时间：
2006-11-01
期刊：
影响因子：
30.8
通讯作者：
Pritchard, Jonathan K.
中科院分区：
文献类型：
--
作者：
Conrad, Donald F.;Jakobsson, Mattias;Pritchard, Jonathan K.
最近的基因组调查已经产生了高分辨率的单倍型信息，但仅限于少数人群。我们报告了代表 52 个群体的 927 名个体的 12 Mb DNA 序列的单倍型结构。单倍型的地理分布反映了人类历史，随着距非洲距离的增加，单倍型多样性逐渐丧失。尽管连锁不平衡（LD）的程度在不同群体之间存在显着差异，但存在相当大的共享单倍型结构，并且推断的重组热点位置通常在不同群体之间匹配。国际 HapMap 项目中的四个样本包含大多数人群中发现的大多数常见单倍型：对人群进行平均，人群中 83% 的常见 20 kb 单倍型在最相似的 HapMap 样本中也很常见。因此，尽管基于 HapMap 的标签 SNP 在低 LD 非洲人中的可移植性有所降低，但 HapMap 将有助于设计几乎所有人群的全基因组关联图谱研究。
Recent genomic surveys have produced high-resolution haplotype information, but only in a small number of human populations. We report haplotype structure across 12 Mb of DNA sequence in 927 individuals representing 52 populations. The geographic distribution of haplotypes reflects human history, with a loss of haplotype diversity as distance increases from Africa. Although the extent of linkage disequilibrium (LD) varies markedly across populations, considerable sharing of haplotype structure exists, and inferred recombination hotspot locations generally match across groups. The four samples in the International HapMap Project contain the majority of common haplotypes found in most populations: averaging across populations, 83% of common 20-kb haplotypes in a population are also common in the most similar HapMap sample. Consequently, although the portability of tag SNPs based on the HapMap is reduced in low-LD Africans, the HapMap will be helpful for the design of genome-wide association mapping studies in nearly all human populations.