Genetic Diversity and Phylogenetic Differentiation of Southwestern Chinese Han: a comprehensive and comparative analysis on 21 non-CODIS STRs.
Genetic Diversity and Phylogenetic Differentiation of Southwestern Chinese Han: a comprehensive and comparative analysis on 21 non-CODIS STRs.
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中国西南汉族的遗传多样性和系统发育分化：21个非CODIS STRs的综合比较分析。
DOI：
10.1038/s41598-017-13190-w
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发表时间：
2017-10-23
影响因子：
4.6
通讯作者：
Hou Y
中科院分区：
文献类型：
--
作者：
He G;Wang Z;Wang M;Hou Y
短串联重复序列（Short tandem repeats，STR）具有高度的多态性和复杂的进化信息，在群体遗传学、分子人类学和人类法医学等遗传关联研究中发挥着重要作用。然而，人类的遗传多样性只有部分采样和可用于中国西南汉族人群，以及该群体的遗传结构仍然是未知的。本研究首先利用21个非CODIS常染色体STR对368名四川汉族无关个体进行基因分型，然后对四川汉族不同行政区划（汉族）和民族区划（少数民族）的系统发育关系进行沿着分析。CMP和CPE分别为6.2796 × 10−20和0.9999999。分子方差分析（AMOVA）、主成分分析（PCA）、多维标度图（MDS）和系统发育分析结果一致表明，西南汉族与地理位置相近的湖南汉族群体亲缘关系较近，与部分民族群体亲缘关系较远，其中以甘肃裕固族和福建畲族的亲缘关系最为显著。北方汉族与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具有高度的多态性和信息量，适用于人类识别和群体遗传学研究。
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 × 10−20 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.
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