Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria.
Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria; Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, Spain.
Forensic Sci Int Genet. 2020 Sep;48:102344. doi: 10.1016/j.fsigen.2020.102344. Epub 2020 Jun 20.
DNA intelligence, and particularly the inference of biogeographical ancestry (BGA) is increasing in interest, and relevance within the forensic genetics community. The majority of current MPS-based forensic ancestry-informative assays focus on the differentiation of major global populations. The recently published MAPlex (Multiplex for the Asia Pacific) panel contains 144 SNPs and 20 microhaplotypes and aims to improve the differentiation of populations in the Asia Pacific region. This study reports the first forensic evaluation of the MAPlex panel using AmpliSeq technology and Ion S5 sequencing. This study reports on the overall performance of MAPlex including the assay's sequence coverage distribution and stability, baseline noise and description of problematic SNPs. Dilution series, artificially degraded and mixed DNA samples were also analysed to evaluate the sensitivity of the panel with challenging or compromised forensic samples. As the first panel to combine biallelic SNPs, multiple-allele SNPs and microhaplotypes, the MAPlex assay demonstrated an enhanced capacity for mixture detection, not easily performed with common binary SNPs. This performance evaluation indicates that MAPlex is a robust, stable and highly sensitive assay that is applicable to forensic casework for the prediction of BGA.
DNA 智能，特别是生物地理祖籍推断（BGA）在法医学遗传学界的兴趣和相关性日益增加。目前大多数基于 MPS 的法医祖籍信息检测方法主要集中在区分主要的全球人群。最近发表的 MAPlex（亚太地区多重检测试剂盒）面板包含 144 个单核苷酸多态性和 20 个微单倍型，旨在提高亚太地区人群的区分度。本研究首次使用 AmpliSeq 技术和 Ion S5 测序对 MAPlex 面板进行了法医评估。本研究报告了 MAPlex 面板的整体性能，包括检测方法的序列覆盖分布和稳定性、基线噪声以及有问题 SNP 的描述。还分析了稀释系列、人工降解和混合 DNA 样本，以评估该面板对具有挑战性或受损法医样本的灵敏度。作为第一个结合双等位基因 SNP、多等位基因 SNP 和微单倍型的面板，MAPlex 检测方法展示了增强的混合物检测能力，这是常见的二进制 SNP 难以实现的。这项性能评估表明，MAPlex 是一种强大、稳定和高度敏感的检测方法，适用于法医案件中 BGA 的预测。
