法医学杂志

法医学杂志 ›› 2021, Vol. 37 ›› Issue (1): 91-98.DOI: 10.12116/j.issn.1004-5619.2020.501205

• 综 述 • 上一篇    下一篇

二代测序技术在Y染色体遗传标记分型中的法医学应用

杨越1，2 ，陶瑞旸2 ，李敏2，3 ，于欢2，4 ，陈丽琴1 ，王亚丽1 ，李成涛1，2   

  1. 1. 内蒙古医科大学法医学教研室，内蒙古 呼和浩特 010030；2. 司法鉴定科学研究院 上海市法医学重点 实验室 司法部司法鉴定重点实验室 上海市司法鉴定专业技术服务平台，上海 200063；3. 四川大学华西 基础医学与法医学院，四川 成都 610041；4. 苏州大学医学部法医系，江苏 苏州 215000
  • 收稿日期:2020-12-23 发布日期:2021-02-25 出版日期:2021-02-28
  • 通讯作者: 李成涛，男，研究员，博士研究生导师，主要从事法医遗传学研究；E-mail：lichengtaohla@163.com
  • 作者简介:杨越（1995—），女，硕士研究生，主要从事法医遗传学研究；E-mail：Yangyue110173@163.com
  • 基金资助:
    上海市科技创新行动计划技术标准项目（19DZ2201400）；中青年科技创新领军人才项目（2018RA2102）；上海市法医学 重点实验室资助项目（17DZ2273200）；上海市司法鉴定专业技术服务平台资助项目（19DZ2292700）；司法部司法鉴定重点实验室 资助项目

Forensic Application of Next Generation Sequencing Technology in the Typing of Y Chromosome Genetic Marker

YANG Yue1,2 , TAO Rui-yang2 , LI Min2,3 , YU Huan2,4 , CHEN Li-qin1 , WANG Ya-li1 , LI Cheng-tao1,2   

  1. 1. Department of Forensic Medicine, Inner Mongolia Medical University, Hohhot 010030, China; 2. 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; 3. West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu 610041, China; 4. Department of Forensic Science, Medical School of Soochow University, Suzhou 215000, Jiangsu Province, China
  • Received:2020-12-23 Online:2021-02-25 Published:2021-02-28

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摘要： 法医遗传学领域常利用Y染色体的父系遗传特点，对非重组区遗传标记进行检测并用于亲缘关 系鉴定、混合斑检测、家系排查以及种族推断等研究。目前毛细管电泳仍是应用最为广泛的检测技术，基 于该技术的商业化检测试剂盒及数据分析处理系统十分成熟。随着生物信息量的增长，传统检测技术通 量低的弊端逐渐显现，推动了法医DNA分型技术的革新。近年来，二代测序（next generation sequencing， NGS）技术发展迅速，其应用已被推广到包括法医遗传学在内的各领域，为Y染色体遗传标记的检测提供了 新的技术手段。本文就NGS技术应用于法医学Y染色体遗传标记检测的研究现况和应用前景进行阐述， 以期为后续司法实务提供新思路。

关键词: 法医遗传学, 二代测序, Y染色体遗传标记, 综述

Abstract: The paternal inheritance characteristics of Y chromosome have been widely used in the forensic genetics field to detect the genetic markers in the non-recombining block, and used in the studies such as, genetic relationship identification, mixed stain detection, pedigree screen and ethnicity determination. At present, capillary electrophoresis is still the most common detection technology. The commercial detection kits and data analysis and processing system based on this technology are very mature. However, the disadvantages of traditional detection technology have gradually appeared with the rapid growth of bio-information amount, which promotes the renewal of forensic DNA typing technology. In recent years, next generation sequencing （NGS） technology has developed rapidly. This technology has been applied to various fields including forensic genetics and has provided new techniques for the detection of Y chromosome genetic markers. This article describes the current situation and application prospects of the NGS technology in forensic Y chromosome genetic markers detection in order to provide new ideas for future judicial practice.

Key words: forensic genetics, next generation sequencing, Y chromosome genetic markers, review

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