Sequence variations of 58 STRs and 94 SNPs in Northeastern Xibe with ForenSeq™ DNA signature prep kit

Abstract

Abstract Massively parallel sequencing (MPS) technology has already shown many advantages in forensic DNA typing. In this study, the repeat region (RR) and flanking region (FR) variations were detected at 58 short tandem repeats (STRs) by MPS, which could increase allelic diversity (34.59%) and gene diversity (3.95%) compared with the capillary electrophoresis (CE) method. Six novel RR variants were identified at 5 STRs, and eleven FR variants were found at 8 STRs. Concordance amounted to 99.96% (4598 out of 4600 alleles) between ForenSeq DNA Signature Prep Kit and CE kits, and discordance was due to bioinformatic misinterpretation at DXS7132. Additionally, allele frequencies and forensic parameters of 94 identity-informative single nucleotide polymorphisms (iiSNPs) provided a reference dataset, which held a higher power of discrimination (1–3.4825 × 10−35). A total of 29 FR variants were found at 24 target iiSNPs. The power of the system effectiveness with the combined 27 autosomal STRs by sequence and 94 iiSNPs was added more substantially than that of a single type of marker alone, such as the combined power of discrimination (CPD) and the combined power of exclusion (CPE) achieving 1–7.1358 × 10−65 and 1–4.4803 × 10−21, respectively. Population structure analyses with iiSNPs and additional ancestry-informative SNPs (aiSNPs) demonstrated that Chinese Xibe in the northeast was one of the East Asian populations. At the genetic level, Northeastern Xibe is close to populations where they live, such as Han Chinese and other ethnic minority groups.