Jin Xiao-Ye, Wei Yuan-Yuan, Lan Qiong, Cui Wei, Chen Chong, Guo Yu-Xin, Fang Ya-Ting, Zhu Bo-Feng
Key laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi'an, China.
Clinical Research Center of Shaanxi Province for Dental and Maxillofacial Diseases, College of Stomatology, Xi'an Jiaotong University, Xi'an, China.
PeerJ. 2019 Mar 29;7:e6508. doi: 10.7717/peerj.6508. eCollection 2019.
In recent years, forensic geneticists have begun to develop some ancestry informative marker (AIM) panels for ancestry analysis of regional populations. In this study, we chose 48 single nucleotide polymorphisms (SNPs) from SPSmart database to infer ancestry origins of continental populations and Chinese subpopulations. Based on the genetic data of four continental populations (African, American, East Asian and European) from the CEPH-HGDP database, the power of these SNPs for differentiating continental populations was assessed. Population genetic structure revealed that distinct ancestry components among these continental populations could be discerned by these SNPs. Another novel population set from 1000 Genomes Phase 3 was treated as testing populations to further validate the efficiency of the selected SNPs. Twenty-two populations from CEPH-HGDP database were classified into three known populations (African, East Asian, and European) based on their biogeographical regions. Principal component analysis and Bayes analysis of testing populations and three known populations indicated these testing populations could be correctly assigned to their corresponding biogeographical origins. For three Chinese populations (Han, Mongolian, and Uygur), multinomial logistic regression analyses indicated that these 48 SNPs could be used to estimate ancestry origins of these populations. Therefore, these SNPs possessed the promising potency in ancestry analysis among continental populations and some Chinese populations, and they could be used in population genetics and forensic research.
近年来，法医遗传学家已开始开发一些祖先信息标记（AIM）面板，用于区域人群的祖先分析。在本研究中，我们从SPSmart数据库中选择了48个单核苷酸多态性（SNP），以推断大陆人群和中国亚人群的祖先起源。基于CEPH-HGDP数据库中四个大陆人群（非洲、美洲、东亚和欧洲）的遗传数据，评估了这些SNP区分大陆人群的能力。群体遗传结构显示，这些SNP可以辨别出这些大陆人群之间不同的祖先成分。来自千人基因组计划第三阶段的另一组新人群被用作测试人群，以进一步验证所选SNP的有效性。根据CEPH-HGDP数据库中的22个人群的生物地理区域，将其分为三个已知人群（非洲、东亚和欧洲）。对测试人群和三个已知人群进行主成分分析和贝叶斯分析表明，这些测试人群可以被正确地分配到其相应的生物地理起源。对于三个中国人群（汉族、蒙古族和维吾尔族），多项逻辑回归分析表明，这48个SNP可用于估计这些人群的祖先起源。因此，这些SNP在大陆人群和一些中国人群的祖先分析中具有广阔的应用潜力，可用于群体遗传学和法医研究。
