多拷贝Y-STR基因座突变分析1例  

Mutation Analysis of the Multi-copy Y-STR Loci in One Case

作　　者：刘振平[1] 傅燕芳 童继军 翟仙敦[3] LIU Zhenping;FU Yanfang;TONG Jijun;ZHAI Xiandun(Forensic Identifi cation Center of Jinhua Public Security Bureau,Jinhua 321000,Zhejiang,China;Institute of Forensic Science,Zhejiang Provincial Public Security Department&Zhejiang Key Laborutory of Forensic Science and Technology,Hangzhou 310009,China;School of Basic Medicine and Forensic Medicine,Henan University of Science and Technology,Luoyang 471023,Henan,China)

机构地区：[1]金华市公安局物证鉴定中心,浙江金华321000 [2]浙江省公安物证鉴定中心,浙江省刑事科学技术应用研究重点实验室,杭州310009 [3]河南科技大学基础医学与法医学院,河南洛阳471023

出　　处：《刑事技术》2024年第6期651-655,共5页Forensic Science and Technology

基　　金：河南省科技攻关项目(222102310398)。

摘　　要：使用ABI Yfi ler华夏白金、中德美联AGCU Y SUPP Plus、SureID PathFinder Plus三种试剂盒对一四代家系中的五例样本进行检验和复核,获得样本Y-STR分型,发现其中1例样本与其他4例样本在DYF387S1、DYS527、DYF404S1、DYS459共4个基因座分型不同,共计11个步长,其他样本上述基因座均为“两条带”,而该样本均为“一条带”,不符合逐步突变模型。对该样本Y染色体序列标签位点检测发现,样本Y染色体AZFc区部分缺失(gr/gr),结合家系遗传结构图,分析认为系父-子遗传时发生片断缺失。AZFc区的部分缺失突变会导致位于该区域的DYF387S1等多个多拷贝基因座分型与家系样本分型不一致,实际工作中应引起重视,必要时可对样本进行Y染色体STS检测,为Y分型家系排查提供科学依据。Five samples from a fourth-generation pedigree were tested and reviewed using three different reagent kits:ABI Yfiler Huaxia Platinum,AGCU Y SUPP Plus and SureID PathFinder Plus kit,Y-STR profiles were obtained for these samples.We observed that one of the samples exhibited different genotypes at four Y-STR loci(DYF387S1,DYS527,DYF404S1,and DYS459)when compared to the other four samples,and the maximum allelic difference was 11 steps.The other samples showed“two bands”at these loci,while this particular sample exhibited“one band.”This observation did not conform to the stepwise mutation model.Upon further examination of the Y-chromosome sequence-tagged sites for this sample,we detected a partial deletion(gr/gr)in the AZFc region of the Y chromosome.Based on the family inheritance structure analysis,we concluded that this partial deletion occurred during paternal transmission as a fragmentary deletion.Partial deletions in the AZFc region can result in inconsistencies between the genotyping of multicopy loci,such as DYF387S1,located in that region,and the genotyping of familial samples.This should be paid more attention in practical work.If necessary,Y-chromosome STS testing can be performed on the sample,providing a scientific basis for investigating Y-STR profiles in families.

关 键 词：法医遗传学 突变 Y-STR AZFc区部分缺失(gr/gr) 多拷贝基因座 

分 类 号：DF795.2[医药卫生—法医学]