Highlights
- •Multiplex STR genotyping of 10 autosomal STRs is feasible by Ion PGM™ system.
- •Sequence variations of 10 autosomal STR loci in 165 Chinese individuals were presented, and 8 new alleles of STR loci were observed.
- •D3S1358, D2S441, D19S433 and D7S820 demonstrated an increased allele number obtained by MPS typing compared to CE typing.
- •D13S317, D5S818 and D7S820 displayed variants adjacent to the core repeats and caused discordances between MPS and CE typing results.
- •D13S317, D16S539, D2S441, D5S818, D7S820 and TPOX displayed significant variations in the flanking regions.
Abstract
Massively parallel sequencing (MPS) technology is gaining interest in the forensic
community. The capabilities of high throughput and simultaneously analyses of many
markers enable MPS as an attractive method for human forensics. Recent studies have
demonstrated the successful application of the MPS system to short tandem repeat (STR)
typing. However, not only DNA sequence variations in the repeat regions of STR but
also in flanking regions are required to facilitate profiles sharing with capillary
electrophoresis (CE)-based typing method. In this study, we constructed a multiplex
PCR system for the MPS analysis of 10 autosomal STR loci (D13S317, D16S539, D19S433,
D2S441, D3S1358, D5S818, D6S1043, D7S820, TH01, TPOX) by designing amplicons in the
size range of 168–273 base pairs. Sequencing results from 165 Chinese unrelated individuals
demonstrated 11 variations in the flanking regions between amplification primer binding
sites and core repeat motifs. In addition, three loci, D13S317, D5S818, and D7S820,
displayed variants adjacent to the core repeats and caused discordances between sequence-based
and length-based typing results. Four loci (D3S1358, D2S441, D19S433 and D7S820) demonstrated
an increased allele number using MPS-based typing. This study demonstrated that STR
typing by MPS could provide more genetic information from both repeat and flanking
regions of STR loci, thus improving the diversity and discrimination power of the
system in forensic detection.
Keywords
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Article info
Publication history
Published online: July 30, 2016
Accepted:
July 27,
2016
Received in revised form:
July 13,
2016
Received:
March 3,
2016
Identification
Copyright
© 2016 Elsevier Ireland Ltd. All rights reserved.
