遗传 ›› 2021, Vol. 43 ›› Issue (10): 962-971.doi: 10.16288/j.yczz.21-186

• 研究报告 • 上一篇    下一篇

微单倍型遗传标记的法医基因组学研究

李茜(), 王浩宇(), 曹悦岩, 朱强, 舒潘寅, 侯婷芸, 王雨婷, 张霁()   

  1. 四川大学华西基础医学与法医学院,成都 610041
  • 收稿日期:2021-05-26 修回日期:2021-07-29 出版日期:2021-10-20 发布日期:2021-08-10
  • 通讯作者: 张霁 E-mail:lixi1105@foxmail.com;wanghy0707@gmail.com;zhangj@scu.edu.cn
  • 作者简介:李茜,在读硕士研究生,专业方向:法医遗传学。E-mail: lixi1105@foxmail.com;|王浩宇,在读硕士研究生,专业方向:法医遗传学。E-mail: wanghy0707@gmail.com; 李茜和王浩宇并列第一作者。
  • 基金资助:
    国家自然科学基金项目资助编号(81571861);国家自然科学基金项目资助编号(81630054)

Forensic genomics research on microhaplotypes

Li Xi(), Wang Haoyu(), Cao Yueyan, Zhu Qiang, Shu Panyin, Hou Tingyun, Wang Yuting, Zhang Ji()   

  1. West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu 610041, China
  • Received:2021-05-26 Revised:2021-07-29 Online:2021-10-20 Published:2021-08-10
  • Contact: Zhang Ji E-mail:lixi1105@foxmail.com;wanghy0707@gmail.com;zhangj@scu.edu.cn
  • Supported by:
    Supported by the National Natural Science Foundation of China Nos(81571861);Supported by the National Natural Science Foundation of China Nos(81630054)

摘要:

微单倍型(microhaplotype, MH)是在一定DNA片段范围之内,由至少两个单核苷酸多态性位点组成的遗传标记。MH兼具无stutter伪峰、多态性丰富以及扩增子较小等特点,有望成为法医学上的一种新型遗传标记。为了从全基因组维度上分析MH的特征,进一步发掘其应用潜能,本研究基于千人基因组计划中105个中国南方汉族个体的全基因组测序数据,构建了迄今为止最全面的MH数据集。结果表明,人类基因组中350 bp范围之内的MH位点数量共计9,490,075个,且微单倍型分布密度对染色体变异水平具有提示作用。从多种碱基跨度范围对MH的多态性分析表明,其多态性潜能可达到或者超过常用短串联重复序列位点的水平。此外,本文归纳总结了MH组装灵活等特点,并提出了构建微单倍型数据库的方案。

关键词: 法医遗传学, 微单倍型, 千人基因组计划, 中国南方汉族群体

Abstract:

Microhaplotype loci (microhaplotype, MHs), defined by two or more closely linked single nucleotide polymorphisms, are a type of molecular marker within a short segment of DNA. As emerging forensic genetic markers, MHs have no stutter artefacts and higher polymorphism, and permit the design of smaller amplicons. In order to identify the markers from a genome wide perspective and explore their potential application further, we constructed the most comprehensive MH dataset to date, based on the whole genome sequencing data of 105 Han individuals in Southern China from 1000 Genomes Project. The results showed that there were 9,490,075 MH loci in the range of 350 bp in the human genome, and the distribution density of microhaplotypes suggests gene variation. Polymorphism analysis of MHs from various base spans showed that the polymorphism of MHs could reach or exceed common short tandem repeat sites. In addition, based on their flexible assembly, a scheme to build the public database of microhaplotypes was proposed.

Key words: forensic genetics, microhaplotypes, 1000 Genomes, Southern Han Chinese