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高通量测序技术在 STR 遗传标记检测中的应用进展。

Application Progress of Massively Parallel Sequencing Technology in STR Genetic Marker Detection.

机构信息

Shanghai Key Laboratory of Forensic Medicine, Key Laboratory of Forensic Science, Ministry of Justice, Shanghai Forensic Service Platform, Academy of Forensic Science, Shanghai 200063, China.

School of Basic Medical Sciences, Shanghai University of Medicine and Health Sciences, Shanghai 201318, China.

出版信息

Fa Yi Xue Za Zhi. 2022 Apr 25;38(2):267-279. doi: 10.12116/j.issn.1004-5619.2020.500502.

Abstract

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.

摘要

近年来,越来越多的法医遗传学实验室开始应用高通量测序(MPS)技术,即下一代测序(NGS)技术,检测常见的法医遗传标记物,包括短串联重复序列(STR)、单核苷酸多态性(SNP)、线粒体 DNA(mtDNA)的控制区或全基因组,以及信使 RNA(mRNA)等,用于法医实践,如个体识别、亲缘关系分析、祖籍推断和体液鉴定。STR 作为法医遗传学中应用最广泛的遗传标记物,目前主要通过毛细管电泳(CE)平台进行检测。与 CE 平台相比,MPS 技术具有同时检测大量遗传标记物、大规模平行检测样本的优势,NGS 检测到的序列多态性使 STR 具有更高的分辨率和系统效率。然而,MPS 技术昂贵,到目前为止还没有统一的标准,并且存在如何将 MPS-STR 数据与现有的 CE-STR 数据库集成等问题。本文综述了 MPS 技术在法医遗传学中 STR 遗传标记物检测中的应用现状,提出了急需解决的主要问题,并展望了该技术在法医遗传学中的应用前景。

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