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群体结构的多位点推断:单核苷酸多态性与微卫星的比较

Multi-locus inference of population structure: a comparison between single nucleotide polymorphisms and microsatellites.

作者信息

Haasl R J, Payseur B A

机构信息

Laboratory of Genetics, University of Wisconsin, Madison, WI 53706, USA.

出版信息

Heredity (Edinb). 2011 Jan;106(1):158-71. doi: 10.1038/hdy.2010.21. Epub 2010 Mar 24.

Abstract

Although growing numbers of single nucleotide polymorphisms (SNPs) and microsatellites (short tandem repeat polymorphisms or STRPs) are used to infer population structure, their relative properties in this context remain poorly understood. SNPs and STRPs mutate differently, suggesting multi-locus genotypes at these loci might differ in ability to detect population structure. Here, we use coalescent simulations to measure the power of sets of SNPs and STRPs to identify population structure. To maximize the applicability of our results to empirical studies, we focus on the popular STRUCTURE analysis and evaluate the role of several biological and practical factors in the detection of population structure. We find that: (1) fewer unlinked STRPs than SNPs are needed to detect structure at recent divergence times <0.3 N(e) generations; (2) accurate estimation of the number of populations requires many fewer STRPs than SNPs; (3) for both marker types, declines in power due to modest gene flow (N(e)m=1.0) are largely negated by increasing marker number; (4) variation in the STRP mutational model affects power modestly; (5) SNP haplotypes (θ=1, no recombination) provide power comparable with STRP loci (θ=10); (6) ascertainment schemes that select highly variable STRP or SNP loci increase power to detect structure, though ascertained data may not be suitable to other inference; and (7) when samples are drawn from an admixed population and one of its parent populations, the reduction in power to detect two populations is greater for STRPs than SNPs. These results should assist the design of multi-locus studies to detect population structure in nature.

摘要

尽管越来越多的单核苷酸多态性(SNP)和微卫星(短串联重复多态性或STRP)被用于推断群体结构,但在此背景下它们的相对特性仍知之甚少。SNP和STRP的突变方式不同,这表明这些位点的多位点基因型在检测群体结构的能力上可能存在差异。在这里,我们使用合并模拟来测量SNP和STRP集合识别群体结构的能力。为了使我们的结果最大程度地适用于实证研究,我们聚焦于广受欢迎的STRUCTURE分析,并评估了几个生物学和实际因素在群体结构检测中的作用。我们发现:(1)在最近的分歧时间<0.3N(e)代时,检测结构所需的不连锁STRP比SNP少;(2)准确估计群体数量所需的STRP比SNP少得多;(3)对于这两种标记类型,适度基因流(N(e)m = 1.0)导致的能力下降在很大程度上会因增加标记数量而被抵消;(4)STRP突变模型的变化对能力的影响较小;(5)SNP单倍型(θ = 1,无重组)提供的能力与STRP位点(θ = 10)相当;(6)选择高度可变的STRP或SNP位点的确定方案会增加检测结构的能力,尽管确定的数据可能不适用于其他推断;(7)当样本取自混合群体及其亲本群体之一时,STRP检测两个群体的能力下降幅度比SNP更大。这些结果应有助于设计多位点研究以检测自然中的群体结构。

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