In recent years, more and more forensic genetics laboratories have begun to apply massively parallel sequencing (MPS) technology, that is, next-generation sequencing (NGS) technology, to detect common forensic genetic markers, including short tandem repeat (STR), single nucleotide polymorphism (SNP), the control region or whole genome of mitochondrial DNA (mtDNA), as well as messenger RNA (mRNA), etc., for forensic practice, such as individual identification, kinship analysis, ancestry inference and body fluid identification. As the most widely used genetic marker in forensic genetics, STR is currently mainly detected by capillary electrophoresis (CE) platform. Compared with CE platform, MPS technology has the advantages of simultaneous detection of a large number of genetic markers, massively parallel detection of samples, the polymorphism of sequence detected by NGS makes STR have the advantages of higher resolution and system efficiency. However, MPS technology is expensive, there is no uniform standard so far, and there are problems such as how to integrate MPS-STR data with the existing CE-STR database. This review summarizes the current status of the application of MPS technology in the detection of STR genetic markers in forensic genetics, puts forward the main problems that need to be solved urgently, and prospects the application prospect of this technology in forensic genetics.
近年来，越来越多的法医遗传学实验室着手应用大规模平行测序（massively parallel sequencing，MPS）技术，即二代测序（next-generation sequencing，NGS）技术，检测包括短串联重复序列（short tandem repeat，STR）和单核苷酸多态性（single nucleotide polymorphism，SNP）在内的常用法医学遗传标记，以及线粒体DNA（mitochondrial DNA，mtDNA）控制区或全序列和信使RNA（messenger RNA，mRNA）等，用于个体识别、亲缘关系鉴定、祖源推断和体液识别等法医学实践。其中，STR作为法医遗传学中使用范围最广的遗传标记，目前主要应用毛细管电泳（capillary electrophoresis，CE）平台检测。与该平台相比，MPS技术具有能够同时检测大量遗传标记、多样本并行检测、测得序列多态性使STR具有更高的分辨能力和系统效能等优势。然而，MPS检测技术花费较大，尚未有统一的使用规范，以及存在如何整合MPS-STR数据与现存CE-STR数据库等难题。本文总结了法医遗传学领域应用MPS技术进行STR遗传标记检测的研究现状，提出了目前亟待解决的主要问题，并对该技术在本领域中的应用前景进行了展望。.
Keywords: forensic genetics; massively parallel sequencing; review; short tandem repeat (STR).