Institute of Forensic Medicine, West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu, Sichuan Province, P. R. China.
Department of Forensic Science, School of Basic Medical Sciences, Central South University, Changsha, Hunan Province, P. R. China.
Electrophoresis. 2021 Aug;42(14-15):1480-1487. doi: 10.1002/elps.202100003. Epub 2021 May 5.
Yi is the seventh-largest ethnic group in China and features mountainous regional characteristics. The Liangshan Yi Autonomous Prefecture is the largest Yi agglomeration with isolated geographical conditions, profoundly impeding genetic communication. Here, we investigated 427 unrelated males of Liangshan from 193 Y-chromosome single nucleotide polymorphisms (Y-SNPs) and 27 Y-chromosome short tandem repeats (Y-STRs) to reveal the genetic structure and paternal phylogeny of the group. The haplogroup diversity reached 0.9169 with 46 different subhaplogroups by 193 Y-SNPs, and the haplotype diversity reached 0.9999 by 27 Y-STR loci. Multidimensional scaling (MDS), N-J tree, and Network were constructed to decipher and visualize the genetic relations between Yi and worldwide groups. Our results revealed: (1) the Network by Y-STRs and Y-SNPs showed the haplogroup D1a1a-M15 in the Liangshan Yi population was a ramification of Tibetan groups' expansion from west to east on the plateau; (2) the haplogroup distribution and the mismatch mutation analysis indicated the haplogroup O2a2b1a1a1a4a2-Z25929 of Liangshan Yi derived from manifold Southeast Asian immigrants; (3) a high-resolution Y-SNPs panel is vital to depict accurate paternal derivations and build an integrated and refining genetic structure of ethnic groups.
彝族是中国的第七大民族，具有山区地域特色。凉山彝族自治州是彝族最大的聚居地，地理条件孤立，严重阻碍了基因交流。在这里，我们对来自 193 个 Y 染色体单核苷酸多态性（Y-SNPs）和 27 个 Y 染色体短串联重复（Y-STRs）的 427 名凉山彝族无亲缘关系男性进行了调查，以揭示该群体的遗传结构和父系进化史。通过 193 个 Y-SNPs 达到了 0.9169 的单倍型多样性，有 46 个不同的亚单倍型，通过 27 个 Y-STR 位点达到了 0.9999 的单倍型多样性。多维尺度分析（MDS）、邻接法（NJ）树和网络构建用于解码和可视化彝族与世界其他群体之间的遗传关系。研究结果表明：（1）Y-STRs 和 Y-SNPs 的网络显示，凉山彝族人群中的 D1a1a-M15 单倍群是高原上藏族群体从西向东扩张的一个分支；（2）单倍群分布和错配突变分析表明，凉山彝族的 O2a2b1a1a1a4a2-Z25929 单倍群源自多种东南亚移民；（3）高分辨率 Y-SNPs 面板对于描绘准确的父系衍化和构建民族的综合和精细化遗传结构至关重要。
