Allelic and haplotypic polymorphisms and paternal genetic analysis of Chinese Shaanxi Han population utilizing a multiplex Y-STR set

The analysis of Y chromosomal genetic markers is of great significance in human genetic fields related to male individuals. The Han nationality is the most populous ethnic group. It is critical to investigate the Y-chromosome short tandem repeat (Y-STR) genetic informativeness of Han nationalities in different Chinese regions in order to gain a comprehensive understanding of their paternal genetic relationships and origin. To assess the allelic and haplotypic polymorphisms of the novel AGCU Y SUPP STR amplification system containing seven Y-STRs in the maximal dataset of the Y-STR Haplotype Reference Database (YHRD) and 17 newly included Y-STRs, and explore the genetic relationships among the Shaanxi Han population and 12 reference populations from China. A total sample of 220 Han male subjects were obtained from the Shaanxi Province, China, and genotyped by the novel AGCU Y SUPP STR amplification system. Multiplex population genetic analyses derived from the same 16 Y-STR loci were carried out among the Shaanxi Han population and 12 reference populations from China. The gene diversities (GD) ranged from the maximum value of 0.9609 (DYS385a,b) to the minimum value of 0.5441 (DYS531). Besides, 217 distinct haplotypes were detected wholly in 220 individuals, of which 214 (98.62%) were exclusive. The entire haplotype diversity (HD) and discrimination capacity (DC) were 0.9999 and 0.9864, respectively, while the haplotype match probability (HMP) was 0.0045. Among the reference populations, the obtained results of population genetic analyses revealed that the Shaanxi Han population had the largest genetic distance with the Guangxi Yao group, but the smallest genetic distance with the Hunan Tujia group. These Y-STR loci in the AGCU Y SUPP STR amplification system were of high genetic polymorphisms and the amplification system could be used as a prospective complementary tool for forensic application and paternal genetics in the Shaanxi Han population.

Y染色体遗传标记的分析在涉及男性个体的人类遗传学领域具有重要意义。汉族是全球人口最多的民族。为全面解析中国不同地区汉族群体的父系遗传关系与起源，探究其Y染色体短串联重复序列（Y-chromosome short tandem repeat, Y-STR）的遗传信息价值极为关键。本研究旨在评估包含7个Y-STR位点的新型AGCU Y SUPP STR扩增体系在最大规模Y-STR单倍型参考数据库（Y-STR Haplotype Reference Database, YHRD）数据集以及新增17个Y-STR位点中的等位基因与单倍型多态性，并探究陕西汉族群体与国内12个参考群体间的遗传亲缘关系。本研究共采集中国陕西省220名汉族男性受试者的样本，采用新型AGCU Y SUPP STR扩增体系完成基因分型。随后基于统一的16个Y-STR位点，对陕西汉族群体与12个国内参考群体开展多重群体遗传学分析。结果显示，各位点的基因多样性（gene diversity, GD）取值范围为0.9609（DYS385a,b，最大值）至0.5441（DYS531，最小值）。此外，在220名受试者中共检出217种独特单倍型，其中214种（98.62%）为独有单倍型。整体单倍型多样性（haplotype diversity, HD）与识别能力（discrimination capacity, DC）分别为0.9999和0.9864，单倍型匹配概率（haplotype match probability, HMP）为0.0045。在参考群体中，群体遗传分析结果表明，陕西汉族群体与广西瑶族群体的遗传距离最远，而与湖南土家族群体的遗传距离最近。综上，本研究所用AGCU Y SUPP STR扩增体系包含的Y-STR位点具有较高的遗传多态性，该体系可作为陕西汉族群体法医学应用与父系遗传学研究的潜在互补工具。