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湖北土家族群体57个常染色体插入/缺失位点的遗传多态性及群体遗传学分析

Genetic polymorphisms and population genetic analyses of 57 autosomal InDel loci in Hubei Tujia group.

作者信息

Lan Jiangwei, Zhang Xingru, Cui Wei, Mei Shuyan, Xu Jingtao, Zhu Bofeng

机构信息

Guangzhou Key Laboratory of Forensic Multi-Omics for Precision Identification, School of Forensic Medicine, Southern Medical University, Guangzhou, China.

College of Forensic Medicine, Xi'an Jiaotong University Health Science Center, Xi'an, China.

出版信息

Front Genet. 2023 Mar 3;14:1066655. doi: 10.3389/fgene.2023.1066655. eCollection 2023.

Abstract

The Tujia is the eighth most populous population in China, but its genetic structure has not been fully studied. In this study, we utilized 57 autosomal Insertion/deletion (InDel) loci to evaluate the genetic polymorphisms and efficiency of forensic applications in the Chinese Hubei Tujia group, and analyzed the genetic structure variances among the studied group and other 26 different reference populations from five continents in 1000 Genomes Project (1KG). The results showed that 57 InDels have no significant deviations from Hardy-Weinberg equilibrium and linkage equilibrium. The combined power of discrimination (CPD) and the combined probability of exclusion (CPE) values for 57 InDels were 0.99999999999999999999999699822 and 0.999975177214539 in the Hubei Tujia group, respectively. In addition, the results of genetic structure analyses indicated that the Hubei Tujia group has close genetic relationships with the Chinese Han population and other East Asian populations. These 57 autosomal InDels can be used as reliable tools for forensic individual identification and paternity testing, and are more suitable for East Asian populations. Furthermore, three InDels (rs72085595, rs145941537, and rs34529639) are promising for inferring ancestral information.

摘要

土家族是中国人口第八多的民族,但其基因结构尚未得到充分研究。在本研究中,我们利用57个常染色体插入/缺失(InDel)位点评估了中国湖北土家族群体的基因多态性和法医应用效率,并分析了该研究群体与千人基因组计划(1KG)中来自五大洲的其他26个不同参考群体之间的基因结构差异。结果表明,57个InDel位点在哈迪-温伯格平衡和连锁平衡方面无显著偏差。在湖北土家族群体中,57个InDel位点的联合鉴别力(CPD)和联合排除概率(CPE)值分别为0.99999999999999999999999699822和0.999975177214539。此外,基因结构分析结果表明,湖北土家族群体与中国汉族群体及其他东亚群体有着密切的基因关系。这57个常染色体InDel位点可作为法医个体识别和亲权鉴定的可靠工具,且更适用于东亚群体。此外,三个InDel位点(rs72085595、rs145941537和rs34529639)在推断祖先信息方面很有前景。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3114/10022698/7c61f89c8dc1/fgene-14-1066655-g001.jpg

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本文引用的文献

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Front Genet. 2022 Jan 10;12:744645. doi: 10.3389/fgene.2021.744645. eCollection 2021.
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