中国汉族人群17个Y-STR基因座突变情况分析

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.

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

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.