Genotyping polymorphic microhaplotype markers through the Illumina (R) MiSeq platform for forensics
Genotyping polymorphic microhaplotype markers through the Illumina (R) MiSeq platform for forensics
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通过用于法医的 Illumina (R) MiSeq 平台对多态性微单倍型标记进行基因分型
DOI：
10.1016/j.fsigen.2018.11.005
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发表时间：
2019
影响因子：
3.1
通讯作者：
Zhang Lin
中科院分区：
文献类型：
--
作者：
Zhu Jing;Lv Meili;Zhou Nan;Chen Dan;Jiang Youjing;Wang Li;He Wang;Peng Duo;Li Zhilong;Qu Shengqiu;Wang Yinji;Wang Hui;Luo Haibo;An Gang;Liang Weibo;Zhang Lin
微单倍型标记是一种新兴的法医学遗传标记，在法医学中受到广泛关注，并可能补充现有的遗传标记面板。短串联重复序列多态性（STRP）和单核苷酸多态性（SNPs）是目前常用的遗传标记。口吃、STR标记的高突变率和SNP标记的低多态性阻碍了某些案件的侦破。Kidd提出了包含2-4个SNP的微单倍型标记。在这项研究中，我们通过三个标准筛选微单倍型基因座，并选择Illumina®MiSeq平台对新标记进行测序。提出了一个新的命名法，并设计了基于Perl的工具FLfinder的基因型微单倍型标记。通过对测序样本进行单倍型数统计和常用法医学参数计算，共获得13个多态性较高的基因座。13个位点中有12个的平均等位基因覆盖率（ACR）为0.72至0.92。结构分析表明，2504个样本（1000基因组计划）可分为5个群体，每个群体代表一个大陆起源。这一发现表明微单倍型标记可用于个体识别和家系推断，为法医学实践提供了新的选择。
Microhaplotype markers are emerging forensic genetic markers that have received broad attention in forensics and may supplement existing genetic marker panels. Short tandem repeat polymorphisms (STRPs) and single nucleotide polymorphisms (SNPs) are the general genetic markers at present. Stutter and the high mutation rate of STR markers and the low polymorphism of SNP markers obstruct the solving of certain cases. Kidd proposed microhaplotype markers that encompass 2–4 SNPs. In this study, we screened microhaplotype loci through three criteria, and chose the Illumina®MiSeq platform to sequence the new markers. A new nomenclature was proposed and Perl-based tool FLfinder was designed to genotype the microhaplotype marker. After counting the number of haplotypes in samples that were sequenced and calculating common forensic parameters, 13 loci with high polymorphism were reported. Twelve of the 13 loci had an average allele coverage ratio (ACR) of 0.72 to 0.92. Structure analysis showed that 2504 samples (1000 genome project) could be divided into 5 groupings of populations, and each one representing a continental origin. The finding indicates that microhaplotype markers could be used for individual identification and ancestry inference, and a new choice is provided for forensic practice in the future.