多个Y-STR基因座等位基因缺失分析

Analysis of Multiple Y-STRs Allele Dropout

目的探讨多个Y-STR基因座等位基因分型缺失原因,为法医学实践提供基础数据。方法使用Y filerplatinum试剂盒对4份样本进行Y-STR分型检测,并使用Y-pathfinder试剂盒进行复核验证,同时常染色体STR分型检测。结果1号样本含Amel-Y在内10个基因座分型缺失,其在染色体上的位置在6.86-8.78Mb之间;2号样本在DYS385a/b等15个基因座分型缺失,其在染色体上的位置在18.63-25.93Mb;3号样本在DYS533等4个基因座分型缺失,其在染色体上的位置在16.28-17.11Mb;4号样本在DYS387S1a/b等6个基因座分型缺失,其在染色体上的位置在23.78-25.93Mb。2、3、4号样本Amel-Y等位基因分型正常。4个样本分属单倍型类群I2a,G2a,O3,L。结论4份样本Y染色体多个等位基因缺失STR基因座紧密相连,可能系染色体片段微缺失所致;Y-STR基因座分型缺失存在多样性,在法医工作中应该引起重视。

Objective To explore the reasons of multiple Y-STRs allele dropout for forensic practice.Methods Four samples were genotyped by Y filer-platinum kit and verified by Y-pathfinder kit.Meanwhile,autosomal STRs typing kit was used.Results 10 Y-STR allele dropout including Amel-Y were found in sample 1,locating from 6.86-8.78Mb;15 Y-STR allele dropout including DYS385a/b etc.were found in sample 2,locating from 18.63-25.93Mb;4 Y-STR allele dropout including DYS533 etc.were found in sample 3,locating from 16.28-17.11Mb;6 Y-STR allele dropout including DYS387S1a/b etc.were found in sample 4,locating from 23.78-25.93Mb.Amel-Y of sample 2,3 and 4 were positive.The haplogroup of these males were identified as I2a,G2a,O3 and L haplogroup respectively.Conclusion Y chromosome multiple STR loci with allele dropout were closely linked in the 4 samples,which may be caused by microdeletion of chromosome fragments;Y-STR allele dropout was diverse,which should be paid attention to in forensic practice.