目的 调查Yfiler(R)Plus试剂盒中所包含的27个Y-STR基因座在潮汕汉族男性群体中的单倍型数据,探讨其群体遗传关系及法医学应用价值.方法 应用Yfiler(R)Plus试剂盒对795名广东潮汕汉族无关男性个体外周血样进行27个Y-STR基因座分型检测,统计分析各基因座的等位基因频率及单倍型多样性,并结合目前国内外已公开发表的其他13个群体相同基因座的单倍型资料,分析潮汕汉族群体的遗传距离和聚类关系.结果 795名无关男性个体中共观察到787种单倍型,其中779种单倍型为唯一单倍型,8种单倍型分别出现两次.单倍型多样性(HD)为0.999975,系统识别能力(DC)达到98.99％.27个Y-STR基因座基因多态性(GD)范围为0.3637(DYS391)～0.9559(DYS385a/b);遗传距离Rst矩阵分析发现,潮汕汉族与广东汉族之间的遗传距离最近(0.0036),与甘肃藏族(0.0935)之间的遗传距离相对较远;基于遗传距离所构建的多维尺度分析MDS图与聚类分析结果基本相符.结论 Yfiler(R) Plus试剂盒中包含的27个Y-STR基因座在潮汕汉族群体中具有丰富的遗传多态性,对建立Y染色体数据库,研究群体遗传学和进行法医学应用有重要意义.%Objective To investigate the genetic polymorphisms of 27 Y-chromosomal short tandem repeats (Y-STR) loci included in Yfiler(R) Plus kit in Han population of Chaoshan area,and explore the population genetic relationships and evaluate its application value on forensic medicine.Methods By detecting 795 unrelated Chaoshan Han males with Yfiler(R) Plus kit,haplotype frequencies and population genetics parameters of the 27 Y-STR loci were statistically analyzed and compared with available data of other populations from different races and regions for analyzing the genetic distance and clustering relation of Chaoshan Han population.Results Seven hundred and eighty-seven different haplotypes were observed in 795 unrelated male individuals,of which 779 haplotypes were unique,and 8 haplotypes occurred twice.The haplotype diversity (HD) was 0.999975 with discriminative capacity (DC) of 98.99％.The gene diversity (GD) at the 27 Y-STR loci ranged from 0.3637(DYS391) to 0.9559(DYS385a/b).Comparing with Asian reference populations,the genetic distance (Rst) between Chaoshan Han and Guangdong Han was the smallest (0.0036),while it was relatively larger between Chaoshan Han and Gansu Tibetan population (0.0935).The multi-dimensional scaling (MDS) plot based on Rst values was similar to the results of clustering analysis.Conclusion Multiplex detection of the 27 Y-STR loci reveals a highly polymorphic genetic distribution in Chaoshan Han population,which demonstrates the important significance of Yfiler(R) Plus kit for establishing a Y-STR database,studying population genetics,and for good practice in forensic medicine.
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