Distribution of recombination crossovers and the origin of haplotype blocks: The interplay of population history, recombination, and mutation

被引：347

作者：

Wang, N ^{[1
]}

Akey, JM ^{[1
]}

Zhang, K ^{[1
]}

Chakraborty, R ^{[1
]}

Jin, L ^{[1
]}

机构：

[1] Univ Cincinnati, Ctr Genome Informat, Dept Environm Hlth, Cincinnati, OH 45267 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2002年 / 71卷 / 05期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1086/344398

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Recent studies suggest that haplotypes are arranged into discrete blocklike structures throughout the human genome. Here, we present an alternative haplotype block definition that assumes no recombination within each block but allows for recombination between blocks, and we use it to study the combined effects of demographic history and various population genetic parameters on haplotype block characteristics. Through extensive coalescent simulations and analysis of published haplotype data on chromosome 21, we find that (1) the combined effects of population demographic history, recombination, and mutation dictate haplotype block characteristics and (2) haplotype blocks can arise in the absence of recombination hot spots. Finally, we provide practical guidelines for designing and interpreting studies investigating haplotype block structure.

引用

页码：1227 / 1234

页数：8

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