纳米孔测序技术在法医遗传学中的应用  

Application of Nanopore Sequencing in Forensic Genetics

作　　者：王雅楠 张庆霞 赵怡 WANG Yanan;ZHANG Qingxia;ZHAO Yi(Shanxi Medical University,Jinzhong 030600,Shanxi,China;Forensic Judicial Appraisal Center of Beijing Public Security Bureau,Beijing 100192,China)

机构地区：[1]山西医科大学,山西晋中030600 [2]北京市公安司法鉴定中心,北京100192

出　　处：《刑事技术》2025年第1期89-95,共7页Forensic Science and Technology

摘　　要：从Sanger测序到高通量测序,测序技术的发展日新月异,为通过法医DNA分析打击犯罪提供更好的技术支撑。近年来,以纳米孔测序技术为主的三代测序技术已在生命科学研究、体外诊断、公共卫生、食品安全等领域应用广泛。纳米孔测序凭借超长读数、实时测序等优势,在与法医相关的STR、微单倍型、mtDNA、DNA甲基化和RNA等人类遗传标记以及微生物、动物、植物等非人源法医遗传物质的检测中显示出巨大的应用前景;其仪器小巧而方便携带,为“实验室带入现场”带来新的可能性,有望实现案发现场实时测序。但纳米孔测序技术仍面临许多问题,如数据分析复杂、错误率相对较高等,离法医日常应用还有一定距离,需要深入研究。本文介绍了纳米孔测序技术的基本原理、特点,综述了纳米孔测序技术在法医遗传领域的应用前景以及所面临的挑战,为相关人员提供参考。From Sanger sequencing to high-throughput sequencing,the rapid development of sequencing technology has been providing better technical support for combating crime through forensic DNA analysis.In recent years,the third-generation sequencing technology,mainly based on nanopore sequencing technology,has been widely applied in life science research,in vitro diagnosis,public health,food safety and otherfields.Nanopore sequencing technology with super-long reading and real-time sequencing has great potential in thefield of forensic genetics.Many authorities and experts have already realized the great potential of nanopore sequencing applications for forensic purposes,although its application in forensic science is still in its infancy.There is little relevant research literature in thefield of forensic science,and we should research and explore it further.In this article,the authors attempt to describe the basic principle and characteristics of nanopore sequencing technology,and share the updates of nanopore sequencing-based STR typing,MH typing,mtDNA,DNA methylation and RNA sequencing during the past several years.Meanwhile,non-human genetic material can provide medical examiners with special evidence and clues.The past decade has witnessed the enormous potential of nanopore sequencing technology in non-human forensic genetics.Especially in the areas of microorganisms,plant,and animal forensics,the application of nanopore sequencing to species identification can exert a huge implication,and provide the vital evidence and clues for the public security.In addition,nanopore sequencing has been used to detect viruses at the scene.In thefield of forensic genetics,the nanopore sequencing with portability and real-time sequencing makes it most likely to sequence directly of biological samples at the crime scene.This development of the nanopore sequencing has opened up new possibilities by bringing“the laboratory into thefield”.This draw the incomparable attraction to the practical application in public security.Moreove

关 键 词：法医遗传学 纳米孔测序 DNA测序 实时测序 非人源遗传物质 

分 类 号：DF795.2[医药卫生—法医学]