中国汉族人群17个Y-STR基因座突变情况分析

Mutation analysis of 17 Y-STR loci in Chinese Han population

目的调查分析17个Y-STR基因座等位基因突变的情况。方法收集中国汉族人群867对父子共1 649份男性血样本。采用YfilerTM复合扩增试剂盒进行17个Y-STR基因座分型,共检测出14 739次等位基因传递,统计各基因座发生等位基因突变的频率。结果在17个基因座中发现涉及13个基因座共41次突变,其中一步突变40次(97.6%),两步突变1次(2.4%);突变共涉及40对父子,其中39对仅1个基因座发生突变(97.5%),1对同时有2个基因座发生突变(2.5%);平均突变率为2.8×10-3(95%CI 2.0～3.8×10-3)。等位基因突变时获得重复单位数19次,丢失重复单位数22次,两者比例接近。结论中国汉族人群Y-STR基因座突变可涉及多数基因座,突变率在2.8×10-3左右,在数据库的建立与应用中应重视,注意采用相关方法进行甄别。

Objective To investigate the mutation rates of 17 Y-STR loci in Chinese Han population.Methods 1 649 male bloodstain samples were collected from 867 DNA-comfirmed father-son pairs from Chinese Han population.The samples were typed using a Y-filer PCR amplification Kit.Total of 14 739 allele transmissions were investigated and the mutation rates were calculated.Results Total 41 mutations were detected at 13 Y-STR loci.Of these mutation events,40（97.6%）were one-step mutation,and one（2.4%）was two-step mutalion,as well as 19 were repeat gains and 22 repeat losses.The average mutation rates was 2.8×10-3 per locus（95% confidence interval,2.0~3.8×10-3）.In addition,these mutations occurred in 40 father-son pairs,39 pairs occurred only at single locus and one pair at two loci simultaneously.Conclusion Mutation may exist in most Y-STR loci in Chinese Han population,and it is notable when we establish and use the Y-STR database.