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

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 YSTR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0.791 0至0.997 5之间，存在200种单倍型...

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

  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.