微单倍型遗传标记研究新进展及其在法医混合DNA分析中的应用  

Research progress in the application of micro-haplotype genetic markers in forensic DNA mixture analysis

作　　者：于文帅 康克莱 张驰 缪磊 冯耀森 季安全 叶健[1,2] 王乐 YU Wenshuai;KANG Kelai;ZHANG Chi;MIAO Lei;FENG Yaosen;JI Anquan;YE Jian;WANG Le(People′s Public Security University of China,Beijing 100038,China;National Engineering Laboratory for Forensic Science,Key Laboratory of Forensic Genetics of Ministry of Public Security,Institute of Forensic Science,Ministry of Public Security,Beijing 100038,China;School of Forensic Medicine,Kunming Medical University,Kunming 650500,China)

机构地区：[1]中国人民公安大学,北京100038 [2]现场物证溯源技术国家工程实验室法医遗传学公安部重点实验室公安部鉴定中心,北京100038 [3]昆明医科大学法医学院,云南昆明650500

出　　处：《沈阳药科大学学报》2023年第9期1245-1252,共8页Journal of Shenyang Pharmaceutical University

基　　金：国家自然科学基金资助项目(81971797);“十三五”国家重点研发计划课题(2017YFC0803503);公安部技术研究计划重点项目(2017JSYJA05)。

摘　　要：微单倍型是2013年被引入法庭科学领域的一类新型遗传标记。由于其遗传多态性优于单核苷酸多态性(single nucleotide polymorphism, SNP)遗传标记,且不像短串联重复序列(short tandem repeat, STR)遗传标记一样受到影子峰的干扰,微单倍型在法医混合DNA分析中具有显著优势。本文作者更新梳理了微单倍型的检测方法,综述了各团队筛选微单倍型基因座的情况和基于二代测序检测体系的研究现状,介绍了微单倍型数据库、数据分析软件和系统命名法,并着重分析了微单倍型在混合DNA鉴定中的优势以及最新应用研究进展,最后对微单倍型未来发展进行展望,希冀为相关研究和应用提供参考。Microhaplotype is a new type of genetic marker introduced into the field of forensic science in 2013.Its genetic polymorphism is better than single nucleotide polymorphism(SNP)genetic markers.It is not disturbed by stutters like short tandem repeat(STR)genetic markers.Therefore,microhaplotypes have significant advantages in forensic DNA mixture analysis.This paper updated the detection methods of microhaplotypes,and summarized the microhaplotype loci screened and reported by different research groups and the microhaplotype detection systems developed on next generation sequencing.This paper introduced the microhaplotype databases,data analysis software and nomenclatures.Then we focused on the advantages of microhaplotypes in DNA mixture analysis and the latest application research progress.Finally,perspectives of microhaplotype future developments were discussed,hoping to provide reference for related research and application.

关 键 词：法医遗传学 微单倍型 混合DNA分析 

分 类 号：D919[医药卫生—法医学]