National Centre for Forensic Studies, Faculty of Science and Technology, University of Canberra, Canberra, Australia.
Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, Santiago de Compostela, Spain.
Forensic Sci Int Genet. 2019 Nov;43:102141. doi: 10.1016/j.fsigen.2019.102141. Epub 2019 Aug 8.
The use of microhaplotypes (MHs) for ancestry inference has added to an increasing number of ancestry-informative markers (AIMs) for forensic application that includes autosomal single nucleotide polymorphisms (SNPs) and insertions/deletions (indels). This study compares bi-allelic and tri-allelic SNPs as well as MH markers for their ability to differentiate African, European, South Asian, East Asian, and American population groups from the 1000 Genomes Phase 3 database. A range of well-established metrics were applied to rank each marker according to the population differentiation potential they measured. These comprised: absolute allele frequency differences (δ); Rosenberg's informativeness for (ancestry) assignment (I); the fixation index (F); and the effective number of alleles (A). A panel consisting of all three marker types resulted in the lowest mean divergence per population per individual (MDPI = 2.16%) when selected by I. However, when marker types were not mixed, MHs were the highest performing markers by most metrics (MDPI < 4%) for differentiation between the five continental populations.
微单倍型（MHs）在祖先推断中的应用增加了越来越多的用于法医学应用的祖先信息标记（AIMs），包括常染色体单核苷酸多态性（SNPs）和插入/缺失（indels）。本研究比较了双等位基因和三等位基因 SNP 以及 MH 标记，以评估它们区分来自 1000 基因组计划第三阶段数据库的非洲、欧洲、南亚、东亚和美洲人群的能力。应用了一系列成熟的指标，根据每种标记测量的种群分化潜力对其进行排名。这些指标包括：绝对等位基因频率差异（δ）；Rosenberg 用于（祖先）分配的信息量（I）；固定指数（F）；有效等位基因数（A）。当按 I 选择时，由所有三种标记类型组成的面板导致每个个体每个种群的平均差异最小（MDPI=2.16%）。然而，当不混合标记类型时，MHs 在大多数指标（MDPI<4%）上表现最佳，可区分五个大陆人群。
