Phylogenetic analysis among 27 Chinese populations and genetic polymorphisms of 20 autosomal STR loci in a Chinese Uyghur ethnic minority group

Allele frequency data and forensic statistical parameters were determined for 20 autosomal short tandem repeat (STR) loci of the PowerPlex 21 System in 214 unrelated healthy individuals of a Uyghur ethnic minority group living in Xinjiang province, northwest China. A total of 232 alleles were observed with the corresponding allele frequencies ranging from 0.0023 to 0.5304. All loci were consistent with Hardy–Weinberg equilibrium (HWE) after the Bonferroni correction (p > 0.0025). The combined probability of exclusion, power of discrimination, probability of matching value were 0.999999999, 0.9999999999999999999999995, and 4.78246 × 10−25, respectively. Our results revealed that the 20 STRs were highly polymorphic and informative, and could be suitable for forensic application, especially parentage test and personal identification. The further population comparison between the Uyghur and other 26 reference populations revealed that the loci of D13S317, TH01 and D6S1043 showed high ethnical specificity. Phylogenetic analysis based on 19 shared loci demonstrated that the Uyghur had a close genetic relationship with the Kazakh, but a distinct genetic distance with other Chinese populations from different ethnicity and regions.本研究针对中国西北新疆地区214名无亲缘关系的健康维吾尔族个体，对其PowerPlex 21系统的20个常染色体短串联重复序列（short tandem repeat, STR）位点的等位基因频率及法医统计学参数进行了检测与分析。本研究共检出232个等位基因，对应的等位基因频率范围为0.0023至0.5304。经邦费罗尼校正后，所有位点均符合哈迪-温伯格平衡（Hardy–Weinberg equilibrium, HWE，p > 0.0025）。累积排除概率、个体识别力与匹配概率分别为0.999999999、0.9999999999999999999999995及4.78246 × 10^−25。研究结果显示，这20个STR位点具备高度多态性与信息价值，可适用于法医应用，尤其适用于亲权鉴定与个人识别。进一步针对维吾尔族与其他26个参考群体的群体比较分析表明，D13S317、TH01及D6S1043这三个位点具有较高的族群特异性。基于19个共有位点的系统发育分析结果显示，维吾尔族与哈萨克族遗传关系紧密，但与其他不同族群、不同地域的中国人群存在显著的遗传距离。