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高通量测序技术:解决法医学疑难生物检材鉴定的关键工具

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微量、降解与混合检材检验鉴定一直以来都是法医物证领域的难题.基于毛细管电泳(capillary electrophoresis,CE)的短串联重复序列(short tandem repeat,STR)检测是法医DNA检验的常规手段.然而,由于其可检测的遗传标记数量有限,在处理复杂和疑难检材时,效能常常受限.随着生物技术的不断革新,越来越多遗传标记借由以二代测序(next generation sequencing,NGS)以及三代测序技术为代表的高通量测序技术得以检测,并在疑难检材的基因分型中起到重要作用.本文综述了高通量测序技术在疑难生物检材中的主要检测手段及应用价值,展望了该检测技术未来的发展方向及应用前景.
Role of high-throughput sequencing technology:a key tool in resolving forensic challenges in biological sample identification
Trace,degraded and mixed DNA evidence have been considered as the challengs in forensic genetics(or forence DNA)identification.Conventional short tandem repeat(STR)typing method based on capillary electrophoresis(CE)plays a role for DNA typing.However,the effectiveness is limited due to the restricted number of genetic markers that can be detected when dealing with complex and difficult evidence.With the continuous development of biotechnology,more and more genetic makers play roles in forensic application.They are using the high-throughput sequencing technologies which is represented by next generation sequencing(NGS)and third-generation sequencing techniques.And they also play an important role in the genotyping of difficult evidence.In this review,we summarized the primary detection methods and applications of high-throughput sequencing technologies in challenging biological samples,and discussed its future development trends as well as application prospects.

Forensic geneticsChallenging DNA samplesNext generation sequencingThird generation sequencingGenotyping

陈安琪、张素华

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复旦大学法庭科学研究院,上海 200032

法医遗传学 疑难检材 二代测序技术 三代测序技术 基因分型

2024

中国法医学杂志
中国法医学会

中国法医学杂志

CSTPCD
影响因子:0.352
ISSN:1001-5728
年,卷(期):2024.39(6)