法医学杂志

法医学杂志 ›› 2019, Vol. 35 ›› Issue (5): 525-530.DOI: 10.12116/j.issn.1004-5619.2019.05.004

所属专题： 人体表征分子鉴识

• 专题 • 上一篇    下一篇

精准医疗时代的法医表型特征分子刻画研究进展

赵雯婷， 江丽， 李彩霞   

  1. 公安部物证鉴定中心 现场物证溯源技术国家工程实验室 法医遗传学公安部重点实验室 北京市现场物证检验工程技术研究中心，北京100038
  • 发布日期:2019-10-25 出版日期:2019-10-28
  • 通讯作者: 李彩霞，女，博士，主任法医师，主要从事法医遗传学研究；E-mail：licaixia@tsinghua.org.cn
  • 作者简介:赵雯婷（1985—），女，博士，副主任法医师，主要从事法医遗传学研究；E-mail：wtzhao@sibs.ac.cn
  • 基金资助:
    国家自然科学基金资助项目（81772027）；“十三五”国家重点研发计划资助项目（2017YFC0803501）；中央级公益性科研院所基本科研业务费资助项目（2018JB046，2017JB025，2017JB027）；2018首都科技领军人才培养工程资助项目（Z18110006318006）

Research Progress on Forensic Molecular Phenotyping in the Age of Precision Medicine#br#

ZHAO Wen-ting, JIANG Li, LI Cai-xia   

  1. National Engineering Laboratory for Crime Scene Evidence Investigation and Examination, Key Laboratory of Forensic Genetics, Beijing Engineering Research Center of Crime Scene Evidence Examination, Ministry of Public Security, Institute of Forensic Science, Beijing 100038, China
  • Online:2019-10-25 Published:2019-10-28

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摘要： 伴随全基因组测序、大数据等新技术发展，各国纷纷建立大型人群队列，作为一项重要的战略资源服务精准医疗等研究，相关工作显著促进了医学、生物学等领域的研究进展，催生了基因检测产业。在法医学领域，族群、系谱、体貌等特征刻画技术应运而生并迅速发展，与传统的法医DNA技术相比，新技术作用凸显“刻画搜索和提供线索”，迅速成为冷案积案等疑难案件侦破的重要手段。本文对精准医疗背景下，国内外大型人群队列的建设、法医表型特征分子刻画技术研究等情况进行综述。

关键词: 法医遗传学, 表型, 精准医疗, 综述

Abstract: With the development of new technologies, such as whole genome sequencing and big data, many countries have constructed large cohorts as strategic resources for precision medicine study. Related studies have significantly promoted research progress in many fields, such as medicine and biology, creating the genetic testing industry. In the forensic field, characterization technologies for features, such as biogeographic ancestry, genetic genealogy and physical appearance have emerged and developed rapidly. Compared with traditional forensic DNA technology, the new technology can search for characteristics and provide clues, quickly becoming an important means to solve difficult cases such as cold cases and accumulated cases. This paper briefly reviews the current status of the construction of large cohorts at home and abroad, and the research progress of forensic molecular phenotyping in the context of precision medicine in the context of precision medicine.

Key words: forensic genetics, phenotype, precision medicine, review