Evaluating 130 microhaplotypes across a global set of 83 populations
Evaluating 130 microhaplotypes across a global set of 83 populations
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DOI：
10.1016/j.fsigen.2017.03.014
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发表时间：
2017-07-01
影响因子：
3.1
通讯作者：
Soundararajan, Usha
中科院分区：
文献类型：
--
作者：
Kidd, Kenneth K.;Speed, William C.;Soundararajan, Usha
如今，法医学中使用的主要DNA标记是短串联重复序列（STR）多态性（STRPs），最初选择它们是因为其具有高度多态性。然而，处理含有来自两个或更多个体的DNA混合物的样本的需求日益普遍，有时会因聚合酶链反应（PCR）扩增所涉及的固有拖带现象而变得复杂，尤其是在严重不平衡的混合物中，当微量成分与主要成分的拖带范围重合时。此外，所使用的STRPs除了提供宽泛的“大陆”层面的分辨率外，对于单源样本的血统提供的证据很少。近年来，分析DNA的方法已经变得强大得多。大规模平行测序（MPS）是一种正在考虑用于法医学常规用途的新方法。主要是为了帮助解析混合物并避免拖带问题，我们已经开始研究一种新型的法医标记——微单倍型基因座，当使用大规模平行测序（MPS）进行分型时，它将为DNA混合物和血统提供有用信息。我们已经确定了130个基因座，并估计了它们在83个不同人群样本中的单倍型（等位基因）频率。这些基因座中的许多被证明对于个体识别以及混合物识别和解析具有很高的信息量。（C）2017作者。由爱思唯尔爱尔兰有限公司出版。这是一篇在知识共享署名 - 非商业性使用 - 禁止演绎（CC BY - NCND）许可下的开放获取文章（http://creativecommons.org/licenses/by - nc - nd/4.0/）
Today the primary DNA markers used in forensics are short tandem repeat (STR) polymorphisms (STRPs), initially selected because they are highly polymorphic. However, the increasingly common need to deal with samples with a mixture of DNA from two or more individuals sometimes is complicated by the inherent stutter involved with PCR amplification, especially in strongly unbalanced mixtures when the minor component coincides with the stutter range of the major component. Also, the STRPs in use provide little evidence of ancestry of a single source sample beyond broad "continental" resolution. Methodologies for analyzing DNA have become much more powerful in recent years. Massively parallel sequencing (MPS) is a new method being considered for routine use in forensics. Primarily to aid in mixture deconvolution and avoid the issue of stutter, we have begun to investigate a new type of forensic marker, microhaplotype loci, that will provide useful information on mixtures of DNA and on ancestry when typed using massively parallel sequencing (MPS). We have identified 130 loci and estimated their haplotype (allele) frequencies in 83 different population samples. Many of these loci are shown to be highly informative for individual identification and for mixture identification and deconvolution. (C) 2017 The Authors. Published by Elsevier Ireland Ltd. This is an open access article under the CC BY-NCND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).