法医学杂志

法医学杂志 ›› 2019, Vol. 35 ›› Issue (1): 84-88，94.DOI: 10.12116/j.issn.1004-5619.2019.01.016

• 综述 • 上一篇    下一篇

大规模平行测序在混合斑检测分析中的应用前景

刘京， 何光林， 侯一平， 王正   

  1. 四川大学华西基础医学与法医学院法医研究所，四川 成都 610041
  • 发布日期:2019-02-25 出版日期:2019-02-28
  • 通讯作者: 王正，男，副研究员，主要从事法医遗传学研究；E-mail：wangzhengtim@scu.edu.cn
  • 作者简介:刘京（1993—），女，博士研究生，主要从事法医遗传学研究；E-mail：1026911516@qq.com
  • 基金资助:
    国家自然科学青年基金资助项目（81501635）

Application Prospect of Massively Parallel Sequencing in Mixed Stain Detection

LIU Jing, HE Guang-lin, HOU Yi-ping, WANG Zheng   

  1. Institute of Forensic Medicine, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu 610041, China
  • Online:2019-02-25 Published:2019-02-28
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摘要： 混合斑是性犯罪案件中常见的生物检材，对其分析及结果解释是法医学检验中的难点之一。目前用于混合斑检测的遗传标记主要依赖于毛细管电泳（capillary electrophoresis，CE）分离技术，而检测结果分析方法主要为包含率法及似然率法。由于CE技术分辨率有限，并不能充分发挥各遗传标记的效能，因此拆分混合斑的能力有限。近年来，兴起的大规模平行测序（massively parallel sequencing，MPS）技术不仅能获得遗传标记的碱基序列信息，而且具有并行检测多种遗传标记的能力，衍生出新的分析方法，为法医混合斑检测分析带来了新的契机。本文拟对混合斑分析常规技术及大规模平行测序技术在混合斑中的应用前景进行综述，旨在为后期研究及实践提供参考和借鉴。

 

关键词: 法医遗传学, 混合斑, 大规模平行测序, 二代测序, 综述

Abstract: Mixed stains is the common biological sample in sexual crime cases. Its analysis and DNA profiles interpretation are one of the difficulties in forensic examination. The current genetic marking of mixed stain detection mainly rely on capillary electrophoresis （CE） separation technology, and the analysis methods of the results are mainly inclusion rate and likelihood methods. Because CE has limited resolution and is not able to exploit the efficacy of each genetic marker, its ability to split mixed stain is limited. In recent years, the emerging massively parallel sequencing （MPS） technique not only can obtain the base sequence information of genetic markers, but also is capable of detecting multiple genetic markers simultaneously, and thus derives new analytical methods, bringing new opportunities for forensic detection and analysis of mixed stain. This paper intends to review the application prospects of conventional mixed stain analyses and MPS technique, therefore to provide references for later research and practice.

Key words: forensic genetics, mixed stain, massively parallel sequencing, second generation sequencing, review

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