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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 of 17 Y-STR loci alleles. Methods A total of 1 649 male blood samples from 867 pairs of Chinese and Han Chinese were collected. Seventeen Y-STR loci were genotyped by YfilerTM multiplex amplification kit. A total of 14 739 alleles were detected, and the frequency of allelic mutation at each locus was calculated. Results A total of 41 mutations involving 13 loci were found in 17 loci, including 40 mutations (97.6%) in one step and 1 mutation (2.4%) in two steps. The mutations involved 40 pairs of father and son, of which 39 were only 1 One locus was mutated (97.5%), while the other two loci were mutated (2.5%). The average mutation rate was 2.8 × 10-3 (95% CI 2.0-3.8 × 10-3). When the allele was mutated, the number of repeat units was 19 times, and the number of repeat units lost was 22 times. The proportions of the two were similar. Conclusion The Y-STR locus mutation in Chinese Han population may involve most loci. The mutation rate is about 2.8 × 10-3. In the establishment and application of the database, attention should be paid to the screening of related methods.