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一个用于血统推断的小型NGS-SNP面板,旨在区分非洲、欧洲、东亚和南亚人群。

A small NGS-SNP panel of ancestry inference designed to distinguish African, European, East, and South Asian populations.

作者信息

Guo Yu-Xin, Jin Xiao-Ye, Xia Zhi-Yu, Chen Chong, Cui Wei, Zhu Bo-Feng

机构信息

Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi'an, P. R. China.

Clinical Research Center of Shaanxi Province for Dental and Maxillofacial Diseases, College of Stomatology, Xi'an Jiaotong University, Xi'an, P. R. China.

出版信息

Electrophoresis. 2020 May;41(9):649-656. doi: 10.1002/elps.201900231. Epub 2020 Mar 24.

DOI:10.1002/elps.201900231
PMID:32009239
Abstract

In this study, a small set of ancestry informative SNPs was selected to differentiate African, European, East and South Asian samples, which was detected by the next-generation sequencing technology. A total of 127 Chinese Shaanxi Han individuals were collected as test samples. No statistically significant linkage disequilibrium of any pair of loci or departure from Hardy-Weinberg equilibrium of each locus was observed in the test population. To evaluate the performance of ancestry assignment using this panel, admixture analysis, principal component analysis, and likelihood ratio calculations were conducted based on the 1000 genome data and test samples. All populations were clustered into four groups, African, European, South and East Asian populations, which were consistent with their geographical origins. The pairwise fixation index (F ) between populations from different continental groups ranged from 0.140 to 0.621 with average 0.415, and the pairwise F between populations from the same continent ranged from 0.000 to 0.056 with average 0.012. The likelihood ratio results of 125 test individuals indicated that their ancestry components were highly possible from East Asia. In conclusion, this small set of ancestry informative SNPs can be used as a reliable tool to identify and quantify ancestry components of unknown samples.

摘要

在本研究中,选择了一小部分祖先信息单核苷酸多态性(SNP)来区分非洲、欧洲、东亚和南亚样本,这些样本通过下一代测序技术进行检测。共收集了127名中国陕西汉族个体作为测试样本。在测试人群中,未观察到任何一对位点存在统计学上显著的连锁不平衡,也未观察到每个位点偏离哈迪-温伯格平衡。为了评估使用该面板进行祖先推断的性能,基于千人基因组数据和测试样本进行了混合分析、主成分分析和似然比计算。所有群体被聚类为四组,即非洲、欧洲、南亚和东亚群体,这与它们的地理起源一致。不同大陆群体的人群之间的成对固定指数(F)范围为0.140至0.621,平均为0.415,同一大陆人群之间的成对F范围为0.000至0.056,平均为0.012。125名测试个体的似然比结果表明,他们的祖先成分极有可能来自东亚。总之,这一小部分祖先信息SNP可作为一种可靠的工具,用于识别和量化未知样本的祖先成分。

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