Multi-Omics Innovative Research Center of Forensic Identication, Department of Forensic Genetics, School of Forensic Medicine, Southern Medical University, Guangzhou 510515, China.
Institute of Brain and Behavioral Science, College of Life Sciences, Shaanxi Normal University, Xi'an, China.
Biomed Res Int. 2020 Aug 25;2020:2124370. doi: 10.1155/2020/2124370. eCollection 2020.
In the present study, we investigated the genetic polymorphisms of 39 ancestry informative marker-insertion/deletion (AIM-InDel) loci in the Chinese Hui group using a previously self-developed panel, further clarified the genetic relationships between the Hui group and other reference populations, and assessed the ancestry inference efficiency of the AIM-InDel panel based on the worldwide population data from 1000 Genomes Phase 3. The results of the locus-specific informativeness ( ) and pairwise fixation index ( ) values, multidimensional scaling analysis, and success ratio of estimation with cross-validation showed that the novel panel could well reveal the genetic structural differentiations of the East Asian, European, African, and South Asian populations. Besides, the biogeographical ancestry origin inference both at the individual and population levels was conducted on the Chinese Hui group by principal component analysis and STRUCTURE analysis, and the results revealed that the Hui group had the East Asian origin, and the East Asian component ratio of Hui group was approximately 88.87%. Furthermore, the population genetic analyses among the Hui group and reference populations were performed based on the insertion allele frequency heat map, population pairwise values and phylogenetic tree, and the results indicated that the Hui group was genetically closer to East Asian populations, especially two Chinese Han populations (CHS and CHB populations).
在本研究中，我们使用先前自行开发的面板，研究了中国回族人群中 39 个祖先信息标记-插入/缺失（AIM-InDel）基因座的遗传多态性，进一步阐明了回族人群与其他参照人群之间的遗传关系，并基于 1000 Genomes Phase 3 的全球人群数据评估了 AIM-InDel 面板的祖先推断效率。通过对各基因座特异性信息量（ ）和成对固定指数（ ）值、多维尺度分析以及交叉验证中的估计成功率的分析，表明该新型面板可以很好地揭示东亚、欧洲、非洲和南亚人群的遗传结构分化。此外，我们还通过主成分分析和 STRUCTURE 分析对回族人群的个体和群体水平的生物地理祖先起源进行了推断，结果表明回族人群具有东亚起源，回族人群的东亚成分比例约为 88.87%。进一步地，我们基于插入等位基因频率热图、群体间 值和系统发育树，对回族人群和参照人群进行了种群遗传分析，结果表明回族人群在遗传上与东亚人群更接近，尤其是两个中国汉族人群（CHS 和 CHB 人群）。
