Y染色体遗传标记的法医学应用及展望  

Y-Chromosomal Genetic Markers:Forensic Application and Prospect

作　　者：明天悦 蒋礼蓉 刘京 畅晶晶[2] 侯一平[1] 张广峰[2] 王正[1] MING Tianyue;JIANG Lirong;LIU Jing;CHANG Jingjing;HOU Yiping;ZHANG Guangfeng;WANG Zheng(West China School of Basic Medical Sciences&Forensic Medicine,Sichuan University,Chengdu 610041,China;Institute of Forensic Science,Ministry of Public Security,Beijing 100038,China)

机构地区：[1]四川大学华西基础医学与法医学院,成都610041 [2]公安部物证鉴定中心,北京100038

出　　处：《刑事技术》2022年第4期411-418,共8页Forensic Science and Technology

基　　金：中央级公益性科研院所基本科研业务费专项资金项目(2018JB041);法医遗传学公安部重点实验室开放课题(2021FGKFKT03)。

摘　　要：作为男性特有的性染色体,Y染色体因父系遗传的特征在法医物证鉴定中具有独特的应用价值。近年来,随着检测技术的发展和分析手段的研发,Y染色体上的多种遗传标记得到了进一步探索,例如应用于家系排查的Y染色体短串联重复序列(Y-chromosome short tandem repeat,Y-STR),突变率极低、具有男性谱系结构特征的Y染色体单核苷酸多态性(Y-chromosomal single nucleotide polymorphism,Y-SNP),以及分型简便且适用于降解检材的插入/缺失多态性(insertion/deletion polymorphism,InDel)。Y染色体遗传标记在法医学家系排查、混合斑检测、群体分析以及人类迁徙等方面的研究进展显著。本文将从Y染色体遗传标记、检测方法及其在法医学领域的研究与应用进行综述,旨在为后期相关研究及实践提供参考。Y chromosome,specific of male,is of unique application value in forensic identification about evidential materials relating to paternal inheritance.In recent years,the renewal and development of both detection technology and analysis methods have brought progressive researches and explorations into various Y-chromosomal genetic markers,e.g.,the Y-chromosomal short tandem repeats(Y-STR)being applied to pedigree screening,Y-chromosomal single nucleotide polymorphism(Y-SNP)intrinsic of extremely low mutation rate and male lineage structure,and the insertion/deletion polymorphism(InDel)that is convenient of typing and suitable for degraded sample.Thus,progresses of the Y chromosomal researches and developments have been made in aspects of pedigree investigation,mixed-stain detection,group analysis,human migration and the others alike.This article is to review the Y chromosomal genetic markers,their detection methods and applicable researches in forensic medicine,purposing to provide references for further related researches and practice.

关 键 词：法医遗传学 Y染色体 短串联重复序列 单核苷酸多态性 插入/缺失多态性 新一代测序技术 

分 类 号：DF795.2[医药卫生—法医学]