Author:
Kwon Ye-Lim,Kim Bo Min,Lee Eun Young,Shin Kyoung-Jin
Abstract
AbstractThe introduction of massively parallel sequencing (MPS) in forensic investigation enables sequence-based large-scale multiplexing beyond size-based analysis using capillary electrophoresis (CE). For the practical application of MPS to forensic casework, many population studies have provided sequence data for autosomal short tandem repeats (STRs). However, SE33, a highly polymorphic STR marker, has little sequence-based data because of difficulties in analysis. In this study, 25 autosomal STRs were analyzed, including SE33, using an in-house MPS panel for 350 samples from four populations (African–American, Caucasian, Hispanic, and Korean). The barcoded MPS library was generated using a two-step PCR method and sequenced using a MiSeq System. As a result, 99.88% genotype concordance was obtained between length- and sequence-based analyses. In SE33, the most discordances (eight samples, 0.08%) were observed because of the 4 bp deletion between the CE and MPS primer binding sites. Compared with the length-based CE method, the number of alleles increased from 332 to 725 (2.18-fold) for 25 autosomal STRs in the sequence-based MPS method. Notably, additional 129 unique alleles, a 4.15-fold increase, were detected in SE33 by identifying sequence variations. This population data set provides sequence variations and sequence-based allele frequencies for 25 autosomal STRs.
Funder
Ministry of Science and ICT, South Korea
Publisher
Springer Science and Business Media LLC
Reference30 articles.
1. Jobling, M. & Gill, P. Encoded evidence: DNA in forensic analysis. Nat. Rev. Genet. 5, 739–751 (2004).
2. Alonso, A. et al. Current state-of-art of STR sequencing in forensic genetics. Electrophoresis 39, 2655–2668 (2018).
3. Bruijns, B., Tiggelaar, R. & Gardeniers, H. Massively parallel sequencing techniques for forensics: A review. Electrophoresis 39, 2642–2654 (2018).
4. Butler, J. M., Shen, Y. & McCord, B. R. The development of reduced size STR amplicons as tools for analysis of degraded DNA. J. Forensic Sci. 48, 1054–1064 (2003).
5. Silva, D. S. B. S. et al. Paternity testing using massively parallel sequencing and the PowerSeq AUTO/Y system for short tandem repeat sequencing. Electrophoresis 39, 2669–2673 (2018).
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