Haplotype analysis of the polymorphic 40 Y-STR markers in Chinese populations.
Haplotype analysis of the polymorphic 40 Y-STR markers in Chinese populations.
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DOI：
10.1016/j.fsigen.2015.08.007
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发表时间：
2015-11
期刊：
影响因子：
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通讯作者：
X. Ou;Ying Wang;Chao Liu;Donggui Yang;Chu-chu Zhang;Shujiao Deng;Hongyu Sun
中科院分区：
文献类型：
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作者：
X. Ou;Ying Wang;Chao Liu;Donggui Yang;Chu-chu Zhang;Shujiao Deng;Hongyu Sun
采用AGCU Y24 STR和GFS Y24 STR两种新一代多重Y-STR基因分型试剂盒，对汉族、回族、朝鲜族、蒙古族、维吾尔族和藏族6个民族1128名男性的40个Y-STR基因座进行了分析。遗传多样性的最低估计值(小于0.5%)对应于标记DYS391(0.441658)和DYS437(0.496977)，最大的多样性对应于标记DYS385a/b(0.969919)和DYS527a/b(0.94676)。还发现了相当数量的重复等位基因和阶梯外等位基因。此外，从1128份样品中鉴定出1111种不同的单倍型，其中1095种是独一无二的。值得注意的是，没有观察到群体之间共享的单倍型。估计的总单倍型多样性(HD)为0.999085，识别能力(DC)为0.970745。基于群体间遗传距离的MDS图显示，南方汉族群体与北方回族、朝鲜族、蒙古族和维吾尔族群体具有遗传相似性，藏族群体与其他群体存在明显的遗传分化。对于Y-STR标记，在计算Y-STR图谱的稀有度时考虑了群体亚结构修正。然而，由于在当前数据中基于单倍型的Fst值非常小(具有40个Y-STR的单倍型为0.000153)，不需要进行子结构校正来估计包含40个标记的单倍型的稀有性。综上所述，我们的研究结果表明，这40个Y-STR在中国少数民族中具有较高的多态性，因此可以作为法医学应用和群体遗传学研究的有力工具。
Forty Y-STR loci were analyzed in 1128 males from the following six Chinese ethnic populations: Han (n= 300), Hui (n= 244), Korean (n= 100), Mongolian (n= 100), Uighur (n= 284) and Tibetan (n= 100), utilizing two new generation multiplex Y-STR systems, AGCU Y24 STR and GFS Y24 STR genotyping kits, which allow for the genotyping of 24 loci from a single amplification reaction in each system. The lowest estimates of genetic diversity (below 0.5) correspond to markers DYS391 (0.441658) and DYS437 (0.496977), and the greatest diversity corresponds to markers DYS385a/b (0.969919) and DYS527a/b (0.94676). A considerable number of duplicate and off-ladder alleles were also revealed. Additionally, there were 1111 different haplotypes identified from the total 1128 samples, of which 1095 were unique. Notably, no shared haplotypes between populations were observed. The estimated overall haplotype diversity (HD) was 0.999085, and its discrimination capacity (DC) was 0.970745. An MDS plot based on the genetic distances between populations showed the genetic similarity of the southern Han population to the Northern populations of Hui, Korean, Mongolian and Uighur and a clear genetic departure of the Tibetan population from other populations. For the Y STR markers, population substructure correction was considered when calculating the rarity of the Y STR profile. However, because the haplotype basedFstvalues are extremely small within the present data (0.000153 with 40 Y-STRs), no substructure correction is required to estimate the rarity of a haplotype comprising 40 markers. In summary, the results of our study indicate that the 40 Y-STRs have a high level of polymorphism in Chinese ethnic groups and could therefore be a powerful tool for forensic applications and population genetic studies.