Analyses of a set of 128 ancestry informative single-nucleotide polymorphisms in a global set of 119 population samples.
Analyses of a set of 128 ancestry informative single-nucleotide polymorphisms in a global set of 119 population samples.
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DOI：
10.1186/2041-2223-2-1
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发表时间：
2011-01-05
期刊：
影响因子：
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通讯作者：
Kidd KK
中科院分区：
文献类型：
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作者：
Kidd JR;Friedlaender FR;Speed WC;Pakstis AJ;De La Vega FM;Kidd KK
使用DNA从人类群体中确定个体的祖先通常是有趣的，并且对于许多目的是有用的，包括混合物作图，控制疾病或性状关联研究中的群体结构以及法医祖先推断。然而，为了估计祖先，包括个体内可能的混合物，以及一组个体内的异质性，等位基因频率对于被认为是贡献群体的人群是必要的。为此，开发了祖先信息标记（AIM）面板。我们正在介绍我们的工作在这样一个小组，由128个祖先信息单核苷酸多态性（AISNPs）已经提出的文献。与以前对这些AISNP的研究相比，我们研究了三倍数量的个体（4，871），三倍数量的人口样本（119）。我们已经验证了许多祖先分配和混合研究，特别是那些最初选择128个SNP的基本原理：非洲裔美国人和墨西哥裔美国人。与此同时，注意到该小组在区分欧亚人群的祖先和量化混合物方面的局限性。我们证明了同时使用的结构程序，以确定哪些群体聚集在一起，从而影响的标记面板的能力，以推断祖先的特定的一组人口样本和它们的相对样本量的重要性。我们展示了在全球范围内的AISNP这个特定的面板的优点和缺点。
Using DNA to determine an individual's ancestry from among human populations is generally interesting and useful for many purposes, including admixture mapping, controlling for population structure in disease or trait association studies and forensic ancestry inference. However, to estimate ancestry, including possible admixture within an individual, as well as heterogeneity within a group of individuals, allele frequencies are necessary for what are believed to be the contributing populations. For this purpose, panels of ancestry informative markers (AIMs) have been developed. We are presenting our work on one such panel, composed of 128 ancestry informative single-nucleotide polymorphisms (AISNPs) already proposed in the literature. Compared to previous studies of these AISNPs, we have studied three times the number of individuals (4,871) in three times as many population samples (119). We have validated this panel for many ancestry assignment and admixture studies, especially those that were the rationale for the original selection of the 128 SNPs: African Americans and Mexican Americans. At the same time, the limitations of the panel for distinguishing ancestry and quantifying admixture among Eurasian populations are noted. We demonstrate the simultaneous importance of the specific set of population samples and their relative sample sizes in the use of the structure program to determine which groups cluster together and consequently influence the ability of a marker panel to infer ancestry. We demonstrate the strengths and weaknesses of this particular panel of AISNPs in a global context.