He Guanglin, Wang Mengge, Liu Jing, Hou Yiping, Wang Zheng
Institute of Forensic Medicine, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu, China.
Int J Legal Med. 2018 Jul;132(4):1079-1082. doi: 10.1007/s00414-017-1679-2. Epub 2017 Sep 5.
Short tandem repeats (STRs) are DNA regions with a variable number of repeated units (2-6 bp) and attractive to genetic application like forensic, population genetics, and anthropological studies. The Huaxia Platinum System allows the multiplex amplification of 23 autosomal STR loci and two gender determination loci. In the present study, genetic polymorphisms of these 23 autosomal STR loci were first obtained from 309 Sichuan Han individuals, southwest China. No evidence of deviation from the Hardy-Weinberg equilibrium (HWE) was identified. The combined match probability (CMP), combined power of discrimination (CPD), and combined power of exclusion (CPE) are 1.087 × 10, 0.999999999999999999999999999, and 0.9999999996 in the Sichuan Han Chinese population, respectively. The inter-population differentiation, PCA, MDS, and phylogenetic analysis revealed that Sichuan Han had a closer genetic relationship with neighboring Han Chinese populations. Our findings indicated that the 23 autosomal STR loci are polymorphic and informative in studied southwestern Chinese Han population and can be utilized as a powerful tool for forensic applications. In addition, population comparisons demonstrated that the genetic similarities widely existed among Han Chinese populations distributed in different administrative divisions, and genetic differences had existed between minorities (most prominently for Uyghur and Kazakh) and Han groups.
短串联重复序列（STR）是具有可变数量重复单元（2 - 6个碱基对）的DNA区域，对法医、群体遗传学和人类学研究等基因应用具有吸引力。华夏铂金系统可对23个常染色体STR基因座和两个性别鉴定基因座进行多重扩增。在本研究中，首先从中国西南部309名四川汉族个体中获得了这23个常染色体STR基因座的遗传多态性。未发现偏离哈迪 - 温伯格平衡（HWE）的证据。四川汉族人群中的累积匹配概率（CMP）、累积鉴别力（CPD）和累积排除力（CPE）分别为1.087×10、0.999999999999999999999999999和0.9999999996。群体间分化、主成分分析（PCA）、多维尺度分析（MDS）和系统发育分析表明，四川汉族与邻近汉族人群具有更密切的遗传关系。我们的研究结果表明，这23个常染色体STR基因座在中国西南部汉族人群中具有多态性且信息丰富，可作为法医应用的有力工具。此外，群体比较表明，分布于不同行政区的汉族人群之间广泛存在遗传相似性，而少数民族（最显著的是维吾尔族和哈萨克族）与汉族群体之间存在遗传差异。
