20个RM Y-STR基因座在四川汉族人群中的多态性和突变率研究

张世林; 蹇慧; 王倩; 王威; 丁艳杰; 张宵; 徐冬冬; 杜冰; 金波

doi:10.12182/20230260308

20个RM Y-STR基因座在四川汉族人群中的多态性和突变率研究

Polymorphism and Mutation Rate of 20 Rapidly Mutating Y-Chromosomal Short Tandem Repeats in Chinese Han Population of Sichuan Province

摘要

摘要:
目的探索20个快速突变Y染色体短串联重复序列（rapidly mutating Y-chromosomal short tandem repeats, RM Y-STRs）在四川汉族人群中的适用性。
方法采用两个RM Y-STR复合扩增体系（RM1：DYF404S1、DYF399S1、DYS547、DYS526a/b、DYS626、DYF403S1a/b、DYS612，RM2：DYS1003、DYS1007、DYR88、DYS712、DYS711、DYS724、DYF1002，共14个RM Y-STR基因座）及Y41SE-v1.2（包括DYS627、DYS576、DYF387S1、DYS518、DYS570、DYS449共6个RM Y-STR基因座，30个普通Y-STR和1个Indel基因座）对200例无关男性及260对父子进行扩增分型，调查并比较20个RM Y-STR和30个普通Y-STR基因座在四川汉族人群中的多态性及突变率。
结果在200例无关男性中20个RM Y-STR基因座基因多样性（gene diversity, GD）在0.7910至0.9975之间，存在200种单倍型，单倍型多样性（haplotype diversity, HD）为1，识别能力（discriminative capacity, DC）为1。Y41SE-v1.2（30 Y-STRs）发现198种单倍型，有4例共享两种单倍型，单倍型多样性为0.9999，识别能力为0.99。260对父子中，20个RM Y-STR基因座共发现68次突变，等位基因重复增加略多于减少（1.19∶1），突变率范围<3.85×10⁻³（95%CI ：0.00～1.41×10⁻²）至2.69×10⁻²（95%CI：1.09×10⁻²～5.47×10⁻²），平均突变率1.19×10⁻²（95%CI ：9.20×10⁻³～1.51×10⁻²）。20个RM Y-STR基因座和Y41SE-v1.2（30 Y-STRs）分别可区分22.3%和13.8%的父子对。
结论 20个RM Y-STR基因座在四川汉族人群中有较高基因和单倍型多样性及父子对区分率，在四川汉族人群中的应用具有较大潜力。

Abstract:
Objective To explore the applicability of 20 rapidly mutating Y-chromosomal short tandem repeats (RM Y-STRs) in Chinese Han population of Sichuan province.
Methods Two RM Y-STR multiple amplification systems (RM1, including DYF404S1, DYF399S1, DYS547, DYS526a/b, DYS626, DYF403S1a/b, and DYS612, and RM2, including DYS1003, DYS1007, DYR88, DYS712, DYS711, DYS724, and DYF1002, with 14 RM Y-STR loci in total) and Y41SE-V1.2 (including 6 RM Y-STR loci of DYS627, DYS576, DYF387S1, DYS518, DYS570, and DYS449, 30 ordinary Y-chromosomal short tandem repeats Y-STR loci, and 1 Indel locus) were used for the amplification and typing of 200 unrelated males and 260 father-son pairs. The polymorphisms and mutation rates of 20 RM Y-STRs and 30 ordinary Y-STRs in Chinese Han population of Sichuan province were investigated and compared.
Results In the 200 unrelated males, the gene diversity (GD) of 20 RM Y-STR loci ranged from 0.7910 to 0.9975, and there were 200 haplotypes. Haplotype diversity (HD) was 1 and the discriminative capacity (DC) was 1. A total of 198 haplotypes were found in Y41se-v1.2 (the 30 Y-STRs), with 4 cases sharing two haplotypes, the haplotype diversity being 0.9999, and the discriminative capacity being 0.99. A total of 68 mutations were found at the 20 RM Y-STRs loci in the 260 father-son pairs, and there was slightly more increase than decrease of allele repeats (1.19∶1), with the mutation rate ranging from <3.85×10⁻³ (95% CI: 0.00-1.41×10⁻²) to 2.69×10⁻² (95% CI: 1.09×10⁻²-5.47×10⁻²), and the average mutation rate being 1.19×10⁻² (95% CI: 9.20×10⁻³-1.51×10⁻²). The 20 RM Y-STRs and the Y41SE-V1.2 (the 30 Y-STRs) could be used to distinguish 22.3% and 13.8% father-son pairs, respectively.
Conclusion The 20 RM Y-STRs have high gene and haplotype diversity and paternal lineage differentiation rate in Chinese Han population of Sichuan province, showing great potential for application in Chinese Han population of Sichuan province.

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