基于38-plex InDels的西北地区人群遗传推断研究

Genetic inference study of populations in northwestern China by 38-plex InDels

目的基于38-plex InDels族群推断体系对中国西北地区新疆汉族、兰州汉族、兰州东乡族、兰州撒拉族、兰州裕固族5个族群的群体遗传结构和族群成分进行研究,评估该体系的推断效能。方法使用38-plex InDels体系检验西北地区5个族群共165份样本并获取InDel位点分型,使用Structure聚类分析、主成分分析及系统发育树综合分析族群间遗传关系,使用族群推断软件(DNA Ancestry Analyzer, DAA)对样本的族群来源进行推断,通过与已知样本信息以及27-plex SNPs族群推断体系检测结果的对比,分析38-plex InDels体系的推断效能。结果 Structure聚类分析和主成分分析显示5个族群的主要祖先成分均为东亚(占88%以上);系统发育树显示新疆汉族、兰州汉族、东乡族、撒拉族、裕固族均聚集到东亚一支,且兰州东乡族、撒拉族、裕固族遗传关系较近;两种族群推断体系检测结果一致性为95.15%(157/165)。结论新疆汉族、兰州汉族、东乡族、撒拉族、裕固族均为东亚族群,兰州东乡族、撒拉族、裕固族遗传关系更近。使用38-plex InDels族群推断体系研究西北地区5个族群的群体遗传结构和遗传关系,结果可供实践应用。

Objective To study the genetic structure and ethnic composition of Xinjiang Han, Lanzhou Han,Dongxiang, Salar and Yugur populations in northwestern China using the 38-plex InDels panel and evaluate the inference efficiency of this panel. Methods In total, 165 individuals of five populations from northwestern China were tested using the 38-plex InDels panel. Structure analysis, principal component analysis, and phylogenetic tree were used to analyze and infer the ancestral origins of all the tested samples. The test results of the 38-plex InDels panel and the 27-plex SNPs panel were compared. Results The structure and principal component analysis results indicated that the major ancestral source of the five ethnic groups from northwestern China is East Asian(accounted for 88%). The phylogenetic tree showed that Xinjiang Han, Lanzhou Han, Dongxiang, Salar and Yugur in northwestern China had a closely relationship with neighboring East Asian groups. The consistency of the test results of the two ancestry inference panels was 95.15%(157/165). Conclusion The samples of five ethnic groups were assigned into East Asian, and Dongxiang, Salar and Yugur are genetically closer. It is practical and feasible to use the 38-plex InDels panel to infer the ancestral information of five populations from northwestern China.