【摘要】 目的探究DYS570基因座微变异与Y-SNP单倍群的关联性。方法利用AIYSNP42、AIYSNP47和Yfiler^TM Platinum试剂盒中89个Y-SNPs和34个Y-STRs对昆明地区116例在DYS570基因座发生微变异的群体进行研究，采用Set-B二代测序试剂盒检测DYS570基因座的核心重复序列，对获得的数据通过直接计数法进行统计分析，运用Network 10.2软件绘制网络图对样本遗传信息进行可视化分析。结果111例DYS570（18.3-21.3）样本的核心重复序列为TTT[TTTC]_18-21，属于O2a2b1a1a1a4-F14494亚群；1例DYS570/20.3样本的核心重复序列为[TTTC]₁₅TTC[TTTC]₅，属于O2a1b1a1a1a1e-F1365亚群；1例DYS570/17.1样本的核心重复序列为[TTTC]₁₇T，属于O2a1b1a1a1a-F11亚群；3例DYS570/19.2样本的核心重复序列为[TTTC]₃TT[TTTC]₁₆，属于D1a1a-M15单倍群。结论DYS570基因座核心重复结构相同的微变异与单倍群存在关联，在法医学实践中可以利用微变异特征反推样本的族源。更多还原

【Abstract】 Objective To investigate the association between microvariants at locus DYS570 and Y-SNPs haplogroup.Methods 89 Y-SNPs and 34 Y-STRs in AIYSNP42,AIYSNP47 and Yfiler^TM Platinum kits were used to detect the genotype of 116 microvariants at locus DYS570 in Kunming,and the Set-B kit was used to detect the core repeat sequences of the DYS570 locus.The data were statistically analyzed by direct counting method.Then,a network map was drawn by Network10.2,in order to visualize the genetic information of the sample.Results The results demonstrated that 111 DYS570/18.3-21.3 samples had a core repeat sequence of TTT[TTTC]_18-21,belonging to subgroup O2a2b1a1a1a4-F14494.A DYS570/20.3sample had a core repeat sequence of[TTTC]₁₅TTC[TTTC]₅,belonging to O2a1b1a1a1a1e-F1365 subgroup.A DYS570/17.1sample had a core repeat sequence of[TTTC]₁₇ T,belonging to the O2a1b1a1a1a-F11 subgroup.Three DYS570 （19.2）samples had[TTTC]₃ TT[TTTC]₁₆,belonging to the D1a1a-M15 haplogroup.Conclusion The results indicated that the microvariant with the same core repeat structure at locus DYS570 was associated with haplogroups,and the ancestry origin of samples can be inferenced from microvariant characteristics during the practice of forensic medicine.更多还原