Institute of Forensic Medicine, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu, 610041, China.
Sci Rep. 2017 Oct 23;7(1):13730. doi: 10.1038/s41598-017-13190-w.
Short tandem repeats (STRs), with high polymorphism and complex evolution information, play a significant role in genetic association studies like population genetics, molecular anthropology and human forensics. However, human genetic diversity has only been partially sampled and available for Southwest Chinese Han population, as well as the genetic architecture of this population remains uncharacterized. In this work, 368 unrelated Han individuals from Sichuan province were firstly genotyped with 21 non-CODIS autosomal STRs, and phylogenetic relationships along administrative (Han Chinese from different regions) and ethnic divisions (minority ethnic groups) were subsequently investigated. The CMP and CPE were 6.2796 × 10 and 0.9999999, respectively. Analysis of molecular variance (AMOVA), principal component analysis (PCA), multidimensional scaling plots (MDS) and phylogenetic analysis consistently demonstrated that the Southwest Han population had a close genetic relationship with the geographically close population (Hunan Han) and kept a distant genetic relationship with some ethnic groups, most prominently for Gansu Yugu and Fujian She. Furthermore, no significant genetic distinction between the Northern Han and Southern Han was observed. Aforementioned results suggested that these 21 STRs are highly polymorphic and informative, which are suitable for human identification and population genetics.
短串联重复序列（STRs）具有高度多态性和复杂的进化信息，在遗传关联研究中发挥着重要作用，如群体遗传学、分子人类学和法医遗传学。然而，人类遗传多样性仅在部分人群中进行了采样，并且西南汉族人群的遗传结构尚未得到充分研究。在这项工作中，首先对来自四川省的 368 名无关汉族个体进行了 21 个非 CODIS 常染色体 STR 基因分型，并随后对行政（来自不同地区的汉族）和种族（少数民族）划分的系统发育关系进行了研究。CMP 和 CPE 分别为 6.2796×10 和 0.9999999。分子方差分析（AMOVA）、主成分分析（PCA）、多维尺度图（MDS）和系统发育分析一致表明，西南汉族人群与地理上接近的人群（湖南汉族）具有密切的遗传关系，与一些少数民族群体保持着较远的遗传关系，尤其是甘肃裕固族和福建畲族。此外，北方汉族和南方汉族之间没有明显的遗传差异。上述结果表明，这 21 个 STR 具有高度多态性和信息量，适合于个体识别和群体遗传学研究。
