The population genetics characteristics of a 90 locus panel of microhaplotypes.
The population genetics characteristics of a 90 locus panel of microhaplotypes.
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DOI：
10.1007/s00439-021-02382-0
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发表时间：
2021-12
期刊：
影响因子：
5.3
通讯作者：
Kidd KK
中科院分区：
文献类型：
--
作者：
Pakstis AJ;Gandotra N;Speed WC;Murtha M;Scharfe C;Kidd KK
单核苷酸多态性（SNP）和具有多个SNP的小基因组区域（微单倍型，MH）正迅速成为新的法医调查工具，以协助个体识别、亲属关系分析、祖先推断和DNA混合物的解卷积。在这里，我们分析了90个微单倍型基因座的信息，4009个人从79个世界人口在6个主要地理区域。该研究包括来自16个群体的524个个体的多重微单倍型测序（mMHseq）数据和来自公共数据库的63个群体的3485个个体的基因型数据。对79个群体的分析揭示了该90重MH面板用于各种法医应用的优异特性，实现了个体化和混合物去卷积的4.55（范围1.04-19.27）的等位基因值（Ae）的总体平均有效数目。特定人群的随机匹配概率范围从10-115的最低值到10-66的最高值。祖先推断的平均信息量（In）为0.355（范围0.117-0.883）。使用mMHseq在39个MH中检测到65个新的SNP。在鉴定的3018个不同微单倍型等位基因中，1337个在至少一个研究的群体中以> 5%的频率出现。90-plex MH面板能够有效区分主要地理区域的种群分组以及区域内不同亚组的划分。开源的、基于网络的软件可用于支持验证法医案例分析的这一技术，并为特定地理区域定制MH分析。在线版本包含补充材料，可通过10.1007/s 00439 -021-02382-0获得。
Single-nucleotide polymorphisms (SNPs) and small genomic regions with multiple SNPs (microhaplotypes, MHs) are rapidly emerging as novel forensic investigative tools to assist in individual identification, kinship analyses, ancestry inference, and deconvolution of DNA mixtures. Here, we analyzed information for 90 microhaplotype loci in 4009 individuals from 79 world populations in 6 major biogeographic regions. The study included multiplex microhaplotype sequencing (mMHseq) data analyzed for 524 individuals from 16 populations and genotype data for 3485 individuals from 63 populations curated from public repositories. Analyses of the 79 populations revealed excellent characteristics for this 90-plex MH panel for various forensic applications achieving an overall average effective number of allele values (Ae) of 4.55 (range 1.04–19.27) for individualization and mixture deconvolution. Population-specific random match probabilities ranged from a low of 10–115 to a maximum of 10–66. Mean informativeness (In) for ancestry inference was 0.355 (range 0.117–0.883). 65 novel SNPs were detected in 39 of the MHs using mMHseq. Of the 3018 different microhaplotype alleles identified, 1337 occurred at frequencies > 5% in at least one of the populations studied. The 90-plex MH panel enables effective differentiation of population groupings for major biogeographic regions as well as delineation of distinct subgroupings within regions. Open-source, web-based software is available to support validation of this technology for forensic case work analysis and to tailor MH analysis for specific geographical regions. The online version contains supplementary material available at 10.1007/s00439-021-02382-0.
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影响因子：
4.5
作者：
Homburger JR;Moreno-Estrada A;Gignoux CR;Nelson D;Sanchez E;Ortiz-Tello P;Pons-Estel BA;Acevedo-Vasquez E;Miranda P;Langefeld CD;Gravel S;Alarcón-Riquelme ME;Bustamante CD
通讯作者：
Bustamante CD
影响因子：
3.1
作者：
de la Puente, M.;Phillips, C.;Lareu, M., V
通讯作者：
Lareu, M., V
影响因子：
3.1
作者：
Kidd, Kenneth K.;Soundararajan, Usha;Ropero-Miller, Jeri D.
通讯作者：
Ropero-Miller, Jeri D.
DOI：
10.1186/s13323-014-0018-3
发表时间：
2015
期刊：
Investigative genetics
影响因子：
--
作者：
Kidd KK;Speed WC
通讯作者：
Speed WC
影响因子：
3.1
作者：
Kidd, Kenneth K.;Speed, William C.;Soundararajan, Usha
通讯作者：
Soundararajan, Usha