Construction and forensic application of 20 highly polymorphic microhaplotypes
Construction and forensic application of 20 highly polymorphic microhaplotypes
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20个高度多态性微单倍型的构建和法医应用
DOI：
10.1098/rsos.191937
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发表时间：
2020-05-13
影响因子：
3.5
通讯作者：
Zha, Lagabaiyila
中科院分区：
文献类型：
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作者：
Kureshi, Aliye;Li, Jienan;Zha, Lagabaiyila
微单倍型标记已成为法医遗传学的重要研究热点。然而，许多报道的微单倍型标记具有有限的多态性。在这项研究中，我们开发了一套高度多态性微单倍型标记的基础上三等位基因的单核苷酸多态性。研究了11个新发现的微单倍型沿着和我们实验室以前鉴定的9个微单倍型。在MiSeq PE 300平台上生成无关个体和家族样品的微单倍型基因型。这20个基因座具有平均大于3.5个有效等位基因数。在整个集合中，累积辨别能力为1-3.3 x 10（-18），累积排除能力为1-1.928 x 10（-7），检测混合物的理论概率为1-1.427 x 10（-6）。对来自1000个基因组计划的26个种群进行了分化比较，区分了东亚、南亚、非洲和欧洲种群。这些标记丰富了微单倍型标记数据库，可用于个体识别、亲子鉴定和家系划分。
Microhaplotype markers have become an important research focus in forensic genetics. However, many reported microhaplotype markers have limited polymorphisms. In this study, we developed a set of highly polymorphic microhaplotype markers based on tri-allelic single-nucleotide polymorphisms. Eleven newly discovered microhaplotypes along with nine previously identified in our laboratory were studied. The microhaplotype genotypes of unrelated individuals and familial samples were generated on the MiSeq PE300 platform. These 20 loci have an average greater than 3.5 effective number of alleles. Over the whole set, the cumulative power of discrimination was 1-3.3 x 10(-18), the cumulative power of exclusion was 1-1.928 x 10(-7) and the theoretical probability of detecting a mixture was 1-1.427 x 10(-6). Differentiation comparisons of 26 populations from the 1000 Genomes Project distinguished among East Asian, South Asian, African and European populations. Overall, these markers enrich the current microhaplotype marker databases and can be applied for individual identification, paternity testing and biogeographic ancestry distinction.