多个Y-STR等位基因缺失及AZF分析

Detection of Multiple Y-STRs Allele Dropout and AZF Analysis

本文探讨多个Y-STR基因座等位基因分型缺失特点及其与AZF(无精子因子)缺失相关性,为法医学应用提供参考。使用Y-STR试剂盒(Yfller Platinum、SureID PathFinder Plus)对23461份男性家系个体血样分析,发现4个及4个以上Y-STR分型缺失样本共14例,使用Y染色体微缺失检测试剂盒检测序列标签位点(sequence-tagged site,STS),根据缺失STS,评价样本Y染色体AZF区缺失情况。结果显示:多个Y-STR分型缺失比例为0.0597%(14/23461),短臂1例,长臂13例,来自不同家系,分型互不相同;13例长臂多个分型缺失样本在AZF区均检出STS缺失,1例短臂多个分型缺失样本未检见异常。本研究提示发生于Y染色体长臂多个STR分型缺失与AZF区微缺失存在对应性,该类分型个体存在不育的生物学基础。

In this paper,the characteristics of allele typing deletion of Y-STR loci and its correlation with AZF(azoospermia factor)deletion were discussed,which could provide reference for forensic practice.Y-STR kits(Yfi ler Platinum,SureID PathFinder Plus)were used to analyze the blood samples of 23461 male family members.A total of 14 cases with 4 or more Y-STR allele-dropout samples were found.Meanwhile,Sequence-tagged site(STS)was detected with Y chromosome microdeletion detection kit,and the deletion of AZF region of Y chromosome was evaluated according to the deletion STS.The results showed that the proportion of multiple Y-STR typing missing was 0.0597%(14/23461),with 1 case of short arm and 13 cases of long arm,which were from different families with different types.STS deletion was detected in the AZF region in 13 long arm multiple typing deletion samples,and no abnormality was detected in 1 short arm multiple typing deletion sample.This study suggests that there is a correspondence between multiple STR allele dropouts in the long arm of Y chromosome and microdeletions in AZF region,and the biological basis of sterility exists in these typing individuals.