遗传

• 研究报告 •    

微单倍型遗传标记的法医基因组学研究【专刊】

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
  • 收稿日期:2021-05-26 修回日期:2021-08-05 出版日期:2021-08-10 发布日期:2021-08-10
  • 通讯作者: 张霁
  • 基金资助:
    国家自然科学基金项目;国家自然科学基金项目

Forensic Genomics Research on Microhaplotypes

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  • Received:2021-05-26 Revised:2021-08-05 Online:2021-08-10 Published:2021-08-10
  • Contact: Ji Zhang

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350bp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和重组热点具有提示作用。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,对于MH组装灵活的特点有了更深刻的归纳,并提出了基于此特点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) are a type of molecular marker in a short segment of DNA, defined by two or more closely linked single nucleotide polymorphisms. 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 the genome wide and explore their potential application further, in this study, 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 350bp in the human genome, and the distribution density of microhaplotypes was suggestive of gene variation and recombination hot spots. Polymorphism analysis of MHs from various base spans showed that MHs could reach or exceed common short tandem repeat sites. In addition, a scheme to build the public database of microhaplotypes based on their flexible assembly was proposed.

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