中国西南地区分布着众多少数民族,同时也包含许多地理和遗传隔离的人群,然而这些族群的遗传结构,特别是父系遗传结构缺乏深度解析。本研究采用Y染色体捕获及Illumina测序技术,对西南地区3个隔离人群男性无关个体样本,包括四川平武县的白马人、石棉县的木雅人及云南景洪市空格人,通过定点复合扩增检测,直接计数法计算相关单倍群频率,应用Past3.0软件进行PCA (principle component analysis, PCA)主成分分析并绘制群体聚类树,研究了3个族群的父系遗传结构,并探讨其遗传亚结构关系。本研究共观察到云南空格人三种Y染色体单倍群、四川白马人四种Y染色体单倍群以及木雅人五种Y染色体单倍群。结果表明,空格人与佤族的父系遗传关系最近;而白马人和木雅人主要集中在D单倍群及其下游,研究提示着白马人和四川羌族的父系遗传关系最近;木雅人与昌都地区藏族和林芝地区藏族父系遗传关系最近。本文对不同族群遗传结构的分析,丰富了我国隔离人群遗传关系的研究成果。

Southwest China is home to numerous ethnic minorities, as well as many geographically and genetically isolated groups. However, the genetic substructure of these ethnic groups, especially the paternal genetic structure between groups, has not been comprehensively analyzed. In this study, we used Y chromosome capture and Illumina sequencing technologies to investigate the paternal genetic structure of three isolated groups of male unrelated individuals, including Baima in Pingwu, Sichuan Province, Muya in Shimian, Sichuan Province, and Kongge in Jinghong, Yunnan Province. We calculated the frequencies of related haplogroups by the fixed-point compound amplification method and direct counting method, and used the Past3.0 software to perform principal component analysis to draw a population clustering tree. we observed that Kongge had 3 Y chromosome haplogroups, Baima had 4 Y chromosome haplogroups, and Muya had 5 Y chromosome haplogroups. The results showed that Kongge was most closely related to the Wa, and the Y chromosome types of the Baima and Muya were mainly concentrated in the D haplogroup and its lower reaches. It has the closest relationship with the Tibetans in Qamdo and Nyingchi. The study on the genetic structure of different ethnic groups has enriched the genetic relationship of isolated populations and provided a new perspective for understanding Chinese ethnic groups.