Y-STRs和Y-SNPs综合分析方法在父系家系调查中的应用

Comprehensive analysis of Y-STRs and Y-SNPs in paternal lineage identification

目的:评估Y-STRs和Y-SNPs综合分析及网络图方法在家系调查中的作用。方法:本研究采集了不同姓氏2个家族共180例男性样本,用YfilerTMPlus试剂盒检测其26个Y-STRs基因座分型,采用微测序技术检测其中36例样本的42个Y-SNPs位点分型,通过直接计数法和网络图进行Y-STRs单倍型分析,探讨单倍型在家族内的变异和Y-SNPs单倍群的分布。结果:P1家族63例样本中检出18种Y-STRs单倍型,网络图中P1家族呈现为单核心星状聚类,抽取的17例样本均属于N-M231单倍群;P2家族117例样本中检出35种单倍型,网络图呈现为双核心星状聚类,抽取的19例样本均属于O1a1a1a1-F78单倍群。结论:通过Y-STRs单倍型和Y-SNPs单倍群遗传标记综合分析的方法,利用网络图对Y-STRs单倍型遗传信息传递过程中的变异情况进行可视化,扩展可认定为同一家系的范围,为防止错误排除DNA来源人生物学父系家系提供参考。

Objective:Evaluate the function of comprehensive analysis of Y-STRs and Y-SNPs,and apply network analysis in paternal lineage identification.Methods:Samples of 180 males from two pedigrees with different surnames were collected.Haplotypes at 26 Y-STRs loci were genotyped with YfilerTMPlus Kit.The genotypes of 42 Y-SNPs in 36 males selected from 180 males were obtained by mini-sequencing.The haplotypes were analyzed using direct counting method and network to discuss the variations of YSTRs haplotypes within pedigree and the distribution of Y-SNPs haplogroups.Results:Eighteen Y-STRs haplotypes were found in 63 individuals of the P1 pedigree,and the 17 individuals selected all belonged to the N-M231 haplogroup;35 haplotypes were found in 117 samples of the P2 pedigree,and the 19 individuals selected all belonged to O1a1a1a1-F78 haplogroup.The network results showed that the P1 pedigree had a central tendency,while the P2 pedigree had two centers.Step-by-step mutation among Y-STR haplotypes within pedigree visually and clearly showed in the network.Conclusion:The Y-SNPs information and the network method integrated with the Y-STRs during pedigree investigation can largely broaden the scale in pedigree investigation,get more reliable paternal pedigree structure and increase the accuracy of paternal lineage identification.