A sequence-based 163plex microhaplotype assay for forensic DNA analysis

• Published in: Frontiers in genetics Vol. 13; p. 988223
• Main Authors: Tao, Ruiyang, Yang, Qi, Xia, Ruocheng, Zhang, Xiaochun, Chen, Anqi, Li, Chengtao, Zhang, Suhua
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 05.10.2022
• Subjects: ancestry inference; forensic genetics; Genetics; microhaplotype (MH); mixture deconvolution; next-generation sequencing (NGS); microhaplotype (MH); mixture deconvolution; next-generation sequencing (NGS); ancestry inference; forensic genetics
• ISSN: 1664-8021; 1664-8021
• DOI: 10.3389/fgene.2022.988223

Novel genetic marker microhaplotype has led to an upsurge in forensic genetic research. This study established a 163 microhaplotype (MH) multiplex assay based on next-generation sequencing (NGS) and evaluated the assay’s performance and applicability. Our results showed that the 163 MH assay was accurate, repeatable and reliable, and could distinguish between African, European-American, Southern Asia and Eastern Asia populations. Among the 163 MH makers, 48 MHs with Ae > 3.0 in China Eastern Han were selected and confirmed to be highly polymorphic, with a combined power of discrimination of 1–8.26 × 10–44 and the combined power of exclusion in duos and trios of 1–1.26 × 10–8 and 1–8.27 × 10–16, respectively. Moreover, the mixture study demonstrated the realizability of the MHs in deconvoluting mixtures with different proportions of two to five-person. In conclusion, our findings support the use of this MH assay for ancestry inference, human identification, paternity testing and mixture deconvolution in forensic research.