Genetic polymorphism of 27 Y-STR loci in Kazakh populations from Eastern Kazakhstan

The establishment of a national haplotype database is important for forensic and genetic applications and requires studying genetic polymorphisms at Y-STR sites. However, the genetic structure of the Eastern Kazakhstan population is poorly characterised. To investigate the genetic polymorphisms of 27 Y-STR loci in the Kazakh population from Eastern Kazakhstan and analyse the population genetic relationships of the Eastern Kazakhs with other populations. The Yfiler Plus kit was utilised to genotype 246 healthy, unrelated males from Eastern Kazakhstan. Based on the raw data, haplotype and allele frequencies along with forensic parameters were calculated, and an MDS plot was constructed. A total of 207 haplotypes were detected, of which 186 were unique. The haplotype diversity and discrimination capacity were 0.997 and 0.841, respectively. Population comparisons showed that Eastern Kazakhs have close genetic relationships with Kazakhs from Xinjiang, China. At the same time, a difference was found between the studied population and the previous one in the same part of Kazakhstan. The obtained haplotypes will help to expand the Kazakhstan Y-chromosome reference database and will be useful for future genetic research and forensic applications.国家单倍型（haplotype）数据库的构建在法医学与遗传学应用中具有重要意义，其研究基础需针对Y-STR（Y染色体短串联重复序列）位点的遗传多态性展开分析。然而，目前针对东哈萨克斯坦人群的遗传结构特征研究仍较为不足。为探究东哈萨克斯坦哈萨克人群27个Y-STR位点的遗传多态性，并分析该群体与其他人群的群体遗传亲缘关系，本研究采用Yfiler Plus试剂盒，对246名来自东哈萨克斯坦的健康无关男性个体进行基因分型。基于原始分型数据，本研究计算了单倍型频率、等位基因频率及相关法医学参数，并构建了多维尺度分析（Multidimensional Scaling, MDS）图谱。本次研究共检出207个单倍型，其中186个为独有单倍型；该群体的单倍型多样性指数与识别能力分别为0.997和0.841。群体对比分析结果显示，东哈萨克斯坦哈萨克人群与中国新疆哈萨克人群具有较近的遗传亲缘关系；同时，本研究群体与此前针对哈萨克斯坦同一区域人群的研究结果存在一定差异。本次研究获得的单倍型数据将有助于扩充哈萨克斯坦Y染色体参考数据库，可为后续遗传学研究及法医学应用提供有力支撑。