Distribution of recombination crossovers and the origin of haplotype blocks: The interplay of population history, recombination, and mutation
Distribution of recombination crossovers and the origin of haplotype blocks: The interplay of population history, recombination, and mutation
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DOI：
10.1086/344398
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发表时间：
2002-11-01
影响因子：
9.8
通讯作者：
Jin, L
中科院分区：
文献类型：
--
作者：
Wang, N;Akey, JM;Jin, L
最近的研究表明，单倍型在整个人类基因组中排列成离散的块状结构。在这里，我们提出了一种可供选择的单倍型区块定义，它假设每个区块内没有重组，但允许区块之间的重组，并利用它来研究人口历史和各种群体遗传参数对单倍型区块特征的综合影响。通过对21号染色体上已公布的单倍型数据进行广泛的融合模拟和分析，我们发现(1)群体人口历史、重组和突变的综合影响决定了单倍型块特征，(2)在没有重组热点的情况下可能会出现单倍型块。最后，我们为设计和解释研究单倍型区块结构提供了实用指南。
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.