AZF区微缺失检测方法分析Y-STR基因座分型缺失现象  

AZF region microdeletion detection method for analyzing typing deletion phenomenon of Y chromosome STR loci

作　　者：赖力[1,2] 吴贻晨 陈点[1] 王尧城 刘尚龙[1,2] LAI Li;WU Yichen;CHEN Dian;WANG Yaocheng;LIU Shanglong(Forensic Science Institute of Fujian Provincial Hospital/Fujian Provincial Key Laboratory of Cardiovascular Disease,Fuzhou,Fujian 350001,China;Provincial Clinical College of Fujian Medical University,Fuzhou,Fujian 350001,China;First Clinical College,Fujian University of Traditional Chinese Medicine,Fuzhou,Fujian 350001,China)

机构地区：[1]福建省立医院司法鉴定所/福建省心血管病重点实验室,福建福州350001 [2]福建医科大学省立临床医学院,福建福州350001 [3]福建中医药大学第一临床医学院,福建福州350001

出　　处：《检验医学与临床》2021年第22期3225-3228,共4页Laboratory Medicine and Clinic

基　　金：福建省教育厅本科高校教育教学改革研究项目(FBJG20190034);福建省卫生健康委员会中青年骨干人才培养项目(2020GGA004)。

摘　　要：目的对个体识别和父源关系鉴定中的Y染色体短串联重复序列(Y-STR)基因座分型缺失现象采用无精症因子区域(AZF区)微缺失检测的方式进行分析,探讨AZF区微缺失对Y-STR基因座分型结果的影响。方法采用3种Y-STR基因座检测系统(AGCU Y24检测系统、GFS 24Y检测系统以及Promega Y23检测系统)检测样本的43个Y-STR基因座,对存在Y-STR基因座分型缺失的样本进一步采用Y染色体微缺失试剂进行检测,对AZF区微缺失情况进行判断。结果发现1例DYS459、DYS527ab基因座分型缺失的样本,检出sY255、sY1191、CDY1、sY254和DAZ 5个序列标签(STS)位点缺失,判断其Y染色体微缺失类型为AZFc区缺失(b2/b4);2例存在亲缘关系的样本均检出DYS522、DYS570和DYS576基因座分型缺失,但未发现Y染色体AZF区微缺失。结论在个体识别和父源关系鉴定中发现Y-STR基因座缺失的个体有可能存在AZF区微缺失,部分Y-STR基因座如DYS459、DYS527ab等分型缺失与Y染色体AZF区STS位点微缺失同时存在,该部分Y-STR基因座在男性不育症基因检测方面具有一定应用价值,而在遗传关系鉴定方面应避免使用。Objective To use the AZF region microdeletion detection method to analyze the loci typing deletion phenomenon of Y chromosome short tandem repeats(Y-STR)loci in personal identification and paternal relationship identification,and to discuss the effect of AZF region microdeletion on Y-STR locus typing results.Methods The three kinds of Y-STR loci detection systems(AGCU Y24 detection system,GFS 24Y detection system and Promega Y23 detection system)were adopted to detect 43 Y-STR loci in samples.The samples with the typing deletion of Y-STR loci were further detected by adopting the Y chromosome microdeletion kit.The situation of AZF region microdeletion was judged.Results The 5 sequence tag(STS)loci deletion of sY255,sY1191,CDY1,sY254 and DAZ were detected out in the sample from 1 case of DYS459 and DYS527ab loci typing deletion,and the Y chromosome microdeletion type was judged as the AZFc region deletion(b2/b4);in the samples from 2 cases of sibship,the loci typing deletions of DYS522,DYS570 and DYS576 were detected out.But no Y chromosome AZF region microdeletion was found.Conclusion The individuals with Y-STR loci deletion have the possibility of AZF region microdeletion in the individual recognition and the parent relationship identification,in partial Y-STR loci such as DYS459,DYS527ab,the typing deletion and Y chromosome AZE region microdelection concurrently exist.These Y-STR loci have a certain application value in the gene detection of male infertility,but which should be avoid to be used in the genetic relationship identification.

关 键 词：Y染色体微缺失 无精症因子区域 STR基因座 

分 类 号：R698.2[医药卫生—泌尿科学]