二代测序技术在法医学的研究进展与应用

作者：杨子豪

单位：

1. 华东政法大学，上海；
2. 司法鉴定科学研究院，上海

关键词：法医遗传学；二代测序；遗传标记
Forensic genetics; Second generation sequencing; Genetic markers
摘要：随着近些年来第二代测序（Second Generation Sequencing, SGS）技术的兴起，法医学者将其引入并应用于法医学领域，从而充分发挥了其测序通量大、测序速度快且成本低的优势，同时大大促进了法医学的发展以及在案件侦破中的应用。本文从测序技术在法医学领域内的应用历程展开，回顾了第二代测序技术在法医学遗传标记检测中的重要性。以现有法医学研究应用相关的Illumina 和Thermo Fisher Scientific 测序技术公司推出的第二代测序技术平台为例，探讨其在法医学领域中的应用现状及潜能。就目前研究而言，这些测序平台可以完成STR 遗传标记、SNP 遗传标记、mtDNA 及mRNA 等遗传标记的测序。然而，测序试剂盒中部分遗传标记的优化、推出及验证针对中国人群测序需求的测序试剂盒、制定一套具有广泛公信力的数据采信标准、测序数据分析软件的优化、与现有法医遗传学数据库的对接、测序数据使用中的伦理问题等均是决定第二代测序技术能否代替（或补充）成熟PCR 毛细管电泳技术以及普遍应用于刑事案件检测的关键。
With the rise of Second Generation Sequencing (SGS) technology in recent years, forensic scientists have introduced and applied it to the field of forensic science, thus taking full advantage of its high throughput, fast sequencing speed and low cost, and greatly contributing to the development of forensic science and its application in case detection. This paper reviews the importance of second-generation sequencing technology in forensic genetic marker detection, starting from the history of the application of sequencing technology in forensic science. The current and potential applications of second-generation sequencing technology in forensic science are explored using the existing platforms from Illumina and Thermo Fisher Scientific Sequencing Technologies, which are relevant to forensic science research. For current research, these sequencing platforms can sequence genetic markers such as STR genetic markers, SNP genetic markers, mtDNA and mRNA. However, the optimisation of some of the genetic markers in sequencing kits, the introduction and validation of sequencing kits for Chinese populations, the development of a widely credible data collection standard, the optimisation of sequencing data analysis software, the interface with existing forensic genetics databases, and the ethical issues in the use of sequencing data are all important factors in determining whether second-generation sequencing technologies can replace (or complement) established PCR capillary tube sequencing technologies. The key to whether second-generation sequencing technology can replace (or complement) established PCR capillary techniques and be universally applied in criminal cases.
DOI：https://doi.org/10.35534/cjsg.0202003
引用：杨子豪．二代测序技术在法医学的研究进展与应用［J］．刑事司法科学与治理，2021，2（2）：11-18．

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