二代测序技术在法医学中的应用进展  

Review of Second Generation Sequencing and Its Application in Forensic Genetics

作　　者：张素华[1] 边英男[1] 赵琪[1] 李成涛[1] 

机构地区：[1]司法部司法鉴定科学技术研究所上海市法医学重点实验室上海市司法鉴定专业技术服务平台,上海200063

出　　处：《法医学杂志》2016年第4期282-289,295,共9页Journal of Forensic Medicine

基　　金：国家自然科学基金资助项目(81302620);中央级科研院所公益专项(GY2014G-4);上海市标准研制项目(14DZ0502500);上海市司法鉴定专业技术服务平台资助项目(16DZ2290900)

摘　　要：近几年二代测序(second generation sequencing,SGS)技术的快速发展,使其在通量增大、读长增加的同时测序成本大幅降低,给生物学领域带来了新的突破,也使法医遗传学进入了一个新的发展阶段。本文从测序技术在法医遗传学的应用历程展开,回顾了测序技术对法医学遗传标记检测的重要性。以已有相关法医学研究应用的Roche、Illumina和Life Technologies三大测序技术公司推出的二代测序技术平台为例,探讨其在法医遗传学中的应用现状及潜能。目前可依赖这些平台完成DNA水平遗传标记(SNP、STR)、RNA水平遗传标记(m RNA、micro RNA)及线粒体DNA全基因组的测序。然而,技术产品的推出及验证、分析软件的成熟化、与现有数据库的对接、大数据使用中的伦理问题等都是决定该技术能否替代(或补充)成熟PCR毛细管电泳技术以及普遍应用于案件检测的关键。The rapid development of second generation sequencing （SGS） within the past few years has led to the increasement of data throughput and read length while at the same time brought down sub- stantially the sequencing cost. This made new breakthrough in the area of biology and ushered the forensic genetics into a new era. Based on the history of sequencing application in forensic genetics, this paper reviews the importance of sequencing technologies for genetic marker detection. The application status and potential of SGS in forensic genetics are discussed based on the already explored SGS plat- forms of Roche, Illumina and Life Technologies. With these platforms, DNA markers （SNP, STR）, RNA markers （mRNA, microRNA） and whole mtDNA can be sequenced. However, development and validation of application kits, maturation of analysis software, connection to the existing databases and the possible ethical issues occurred with big data will be the key factors that determine whether this technology can substitute or supplement PCR-CE, the mature technology, and be widely used for cases detection.

关 键 词：法医遗传学 二代测序 综述[文献类型] 遗传标记 

分 类 号：R512.62[医药卫生—内科学]