Y染色体14个Y-STR等位基因缺失  

Deletion of 14 Y-STR Alleles from Y-Chromosome:Case Report

作　　者：徐志成[1] 陈新星[1] 杨晓波 裘羽[1] XU Zhicheng;CHEN Xinxing;YANG Xiaobo;QIU Yu(Institute of Criminal Science and Technology,Huzhou Public Security Bureau,Huzhou 313000,Zhejiang,China)

机构地区：[1]浙江省湖州市公安局刑事科学技术研究所,浙江湖州313000

出　　处：《刑事技术》2020年第4期438-440,共3页Forensic Science and Technology

摘　　要：一男性样本经47个Y-STR等位基因检验发现出现14个缺失,经用Yfiler PlusTM、AGCU ZGWZ FSY和AGCU Y SUPP试剂盒相互验证检测确认无误。一般情况下,一个等位基因缺失可能是引物区突变或极小片段缺失,两个基因座以上基本就是微缺失或大片段缺失。该案例出现Y染色体大片段连锁缺失,造成缺失区域的AZF区域微缺失,表现为无精子症或少精子症。目前数据库尚无对Y-STR缺失等位基因的准确标识,影响了缺失等位基因的比对分析。A deletion of 14 Y-STR alleles was observed from 47 Y-STR loci of a male sample when it was analyzed with the kits of Y-filer PlusTM,AGCU ZGWZ FYS and AGCU Y SUPP.Generally,one allele deletion may be resulted from the primer region mutation or minimal fragment deletion,yet the allelic absence relating to more than two loci may be basically caused through microdeletion or large fragment deletion.In the case reported here,a large linkage deletion occurred in Y chromosome,resulting in a microdeletion of AZF zone in the certain region so that the azoospermia or oligozoospermia was manifested(with one of the testers).At present,there is no accurate record of Y-STR deleted alleles in the database,thus likely affecting the comparative analysis relating to the deleted alleles.

关 键 词：法医遗传学 Y-STR 基因突变 基因缺失 

分 类 号：DF795.2[医药卫生—法医学]