中国汉族男性家系Y-STR容差规律研究

Research on the mismatch distribution patterns of Y-STR between the male lineage in Chinese Han population

目的调查分析常用的35个Y-STR以及累加另24个备选Y-STR基因座在中国汉族男性家系成员及无关个体间的容差分布情况,研究获得不同容差数与间隔减数分裂次数之间的分布规律。方法收集37个中国汉族男性家系成员283名与100名无关人员血样,利用Yfiler PlusTM、ZGWZ FSY、Yfiler Platinum、SureID?PathFinder Plus、Y SUPP Plus试剂盒进行Y-STR分型,分析35个常用Y-STR和总共59个Y-STR分型数据,分别统计家系成员之间和无关个体之间的容差分布情况,并利用贝叶斯公式计算不同容差数的家系成员之间间隔不同减数分裂次数的概率分布。结果对于35个Y-STR分型,家系成员之间容差分布在0~5个基因座与0~5个步长,97.98%的容差发生在3个基因座以内;0容差的两个体有68.33%概率在间隔6次减数分裂以内,3容差的两个体有74.34%的概率在间隔10次以上。对于59个Y-STR分型,家系成员之间的容差分布在0~7个基因座与0~9个步长,90.56%的容差发生在3个基因座以内;0容差的两个体有71.89%概率在间隔6次减数分裂以内,3容差的两个体有57.96%的概率在间隔10次以上。无关个体之间的容差至少在10个基因座以上,与家系成员之间无交集。结论本研究探索的家系成员之间的Y-STR容差规律及获得的不同基因座数情况下不同容差数的两个体间的间隔减数分裂次数概率,可为实战中利用Y-STR数据库比对结果判断亲缘关系远近提供参考依据,为行业标准的制定与完善提供基础数据与评价依据。

Objective To investigate and analyze the mismatch distribution of commonly used 35 Y-STR and another 24 Y-STR loci among Chinese Han male lineage members and unrelated individuals,and to obtain the distribution patterns between different mismatch numbers and different meiosis intervals.Methods Blood samples of 283 individuals from 37 Chinese Han male lineages and 100 unrelated individuals were typed using Yfler Plus'M,ZGWZ FSY,Yfiler Platinum,SureID PathFinder Plus,and Y SUPP Plus kits,and the genotyping data of 35 YSTR and 59 Y-STR were used to calculate the mismatch distribution among family members and between unrelated individuals,and the Bayesian formula was used to calculate the mismatch probability distribution among members with different meiosis intervals within the lineage.Results For the 35 Y-STR loci,the mismatch loci among family members ranged from 0~5 loci and 0~5 steps,and 97.98%of the mismatch loci were within 3.Two individuals with no mismatch had a 68.33%probability of being within 6 meiosis intervals and with 3 loci mismatches had a 65.2%probability of more than 10 meiosis intervals.For the 59 Y-STR loci,the mismatch loci among family members were distributed in 0~7 loci and 0~9 steps,and 90.56%of the mismatch loci were within 3.Two individuals with no mismatch had a 71.89%probability of being within 6 meiosis intervals and with 3 loci mismatches had a 57.96%probability of more than 10 meiosis intervals.The mismatch between unrelated individuals was at least 10 loci and there was no intersection with the male lineage members.Conclusion The mismatch distribution patterns of Y-STR between the male lineage members and the probability of interval meiosis between two individuals with different mismatch numbers under different numbers of Y-STR loci obtained in this study can provide a reference for judging the proximity of kinship when comparing the results of the Y-STR database,and provide basic data and evaluation basis for the development and improvement of industry standards.