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利用多位点基因型数据推断群体结构:连锁位点与相关等位基因频率

Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies.

作者信息

Falush Daniel, Stephens Matthew, Pritchard Jonathan K

机构信息

Department of Molecular Biology, Max-Planck Institut für Infektionsbiologie, Schumann Strasse 21/22, 10117 Berlin, Germany.

出版信息

Genetics. 2003 Aug;164(4):1567-87. doi: 10.1093/genetics/164.4.1567.

Abstract

We describe extensions to the method of Pritchard et al. for inferring population structure from multilocus genotype data. Most importantly, we develop methods that allow for linkage between loci. The new model accounts for the correlations between linked loci that arise in admixed populations ("admixture linkage disequilibium"). This modification has several advantages, allowing (1) detection of admixture events farther back into the past, (2) inference of the population of origin of chromosomal regions, and (3) more accurate estimates of statistical uncertainty when linked loci are used. It is also of potential use for admixture mapping. In addition, we describe a new prior model for the allele frequencies within each population, which allows identification of subtle population subdivisions that were not detectable using the existing method. We present results applying the new methods to study admixture in African-Americans, recombination in Helicobacter pylori, and drift in populations of Drosophila melanogaster. The methods are implemented in a program, structure, version 2.0, which is available at http://pritch.bsd.uchicago.edu.

摘要

我们描述了对普里查德等人方法的扩展,该方法用于从多位点基因型数据推断种群结构。最重要的是,我们开发了允许位点间连锁的方法。新模型考虑了在混合种群中出现的连锁位点之间的相关性(“混合连锁不平衡”)。这种改进有几个优点,包括(1)检测更久远过去的混合事件,(2)推断染色体区域的起源种群,以及(3)当使用连锁位点时更准确地估计统计不确定性。它在混合作图中也有潜在用途。此外,我们描述了一种针对每个种群中等位基因频率的新先验模型,该模型能够识别使用现有方法无法检测到的细微种群细分。我们展示了将新方法应用于研究非裔美国人的混合、幽门螺杆菌的重组以及黑腹果蝇种群中的漂变的结果。这些方法在一个名为structure的程序版本2.0中实现,可在http://pritch.bsd.uchicago.edu获取。

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