广西汉族人群20个常染色体STR基因座遗传多态性研究

Genetic Polymorphisms of 20 Autosomal STR Loci in Guangxi Han Population

摘要: 目的：研究广西汉族人群20个常染色体短串联重复序列(STR)基因座的遗传多态性，探究其在法医学中的应用价值。方法：选取实验室2021~2022年采集的广西南宁周边地市汉族无关个体样本516例，进行STR复合扩增及等位基因分型。计算等位基因频率及群体遗传学参数。结果：20个STR基因座的杂合度为0.610~0.903，个体识别能力为0.780~0.981，累积个人识别能力为0.99999999，累积非父排除概率为0.99998910。20个基因座中检出等位基因和基因型种类分别为249和943。除D6S1043、D13S317外，各基因座分布均符合Hardy-Weinberg定律。结论：20个STR基因座在广西地区汉族人群中具有高遗传多态性和鉴别能力，所获得的遗传数据可为该地区的法医学及群体遗传学研究提供参考。

Abstract: Objective: To investigate the genetic polymorphisms of 20 autosomal short tandem repeat (STR) loci in the Han population of Guangxi and to explore their application value in forensic science. Methods: A total of 516 unrelated Han individual samples collected from surrounding cities of Nanning, Guangxi, between 2021 and 2022 were selected. STR multiplex amplification and allele genotyping were performed. Allele frequencies and population genetic parameters were calculated. Results: The heterozygosity of the 20 STR loci ranged from 0.610 to 0.903. The power of discrimination (PD) for individual loci ranged from 0.780 to 0.981. The combined power of discrimination (CPD) was 0.99999999, and the combined probability of paternity exclusion (CPE) was 0.99998910. A total of 249 alleles and 943 genotypes were observed across the 20 loci. With the exception of D6S1043 and D13S317, the genotype distributions at all loci were in accordance with Hardy-Weinberg equilibrium. Conclusion: The 20 STR loci exhibit high genetic polymorphism and discriminative power in the Han population of Guangxi. The obtained genetic data can serve as a reference for forensic science and population genetics research in this region.