Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, Spain.
Centre for Forensic Science, School of Mathematical and Physical Sciences (MaPS), Faculty of Science, University of Technology, Sydney, Australia; National Centre for Forensic Studies, Faculty of Science & Technology, University of Canberra, ACT, Australia.
Forensic Sci Int Genet. 2019 Sep;42:213-226. doi: 10.1016/j.fsigen.2019.06.022. Epub 2019 Jun 28.
Current forensic ancestry-informative panels are limited in their ability to differentiate populations in the Asia-Pacific region. MAPlex (Multiplex for the Asia-Pacific), a massively parallel sequencing (MPS) assay, was developed to improve differentiation of East Asian, South Asian and Near Oceanian populations found in the extensive cross-continental Asian region that shows complex patterns of admixture at its margins. This study reports the development of MAPlex; the selection of SNPs in combination with microhaplotype markers; assay design considerations for reducing the lengths of microhaplotypes while preserving their ancestry-informativeness; adoption of new population-informative multiple-allele SNPs; compilation of South Asian-informative SNPs suitable for forensic AIMs panels; and the compilation of extensive reference and test population genotypes from online whole-genome-sequence data for MAPlex markers. STRUCTURE genetic clustering software was used to gauge the ability of MAPlex to differentiate a broad set of populations from South and East Asia, the West Pacific regions of Near Oceania, as well as the other globally distributed population groups. Preliminary assessment of MAPlex indicates enhanced South Asian differentiation with increased divergence between West Eurasian, South Asian and East Asian populations, compared to previous forensic SNP panels of comparable scale. In addition, MAPlex shows efficient differentiation of Middle Eastern individuals from Europeans. MAPlex is the first forensic AIM assay to combine binary and multiple-allele SNPs with microhaplotypes, adding the potential to detect and analyze mixed source forensic DNA.
当前的法医亲缘信息面板在区分亚太地区人群方面的能力有限。MAPlex（亚太多重探针）是一种大规模平行测序（MPS）检测方法，旨在提高东亚、南亚和近大洋人群的区分能力，这些人群广泛分布于亚洲大陆，其边缘地区存在复杂的混合模式。本研究报告了 MAPlex 的开发；结合微单倍型标记物选择 SNP；为减少微单倍型长度同时保留其亲缘信息而进行的检测设计考虑因素；采用新的人群信息多等位 SNP；编译适合法医 AIMs 面板的南亚信息 SNP；以及从 MAPlex 标记物的在线全基因组序列数据中编译广泛的参考和测试人群基因型。STRUCTURE 遗传聚类软件用于评估 MAPlex 区分来自南亚和东亚、近大洋西太平洋地区以及其他全球分布人群的广泛群体的能力。MAPlex 的初步评估表明，与以前具有可比规模的法医 SNP 面板相比，MAPlex 增强了南亚的分化，欧亚西部、南亚和东亚人群之间的差异更大。此外，MAPlex 还显示出从中东个体中有效区分欧洲个体的能力。MAPlex 是第一个将二进制和多等位 SNP 与微单倍型相结合的法医 AIM 检测方法，增加了检测和分析混合来源法医 DNA 的潜力。
