D5S818 Typing Discrepancy Between PowerPlex (R) Fusion and Other STR Kits Including GlobalFiler (R) Caused by a One-base Deletion in 31 Nucleotides Upstream of the Repeat Region

摘要

Short tandem repeat (STR) typing is widely used in forensic investigation. When the same DNA sample is analyzed with different STR typing kits, a typing discrepancy is occasionally observed. In this study, we examined the cause of a typing discrepancy in a sample at D5S818 locus. This sample was designated as 10, 12 using Identifiler (R), Identifiler (R) Plus, GlobalFiler (R), PowerPlex (R) 16HS, and PowerPlex (R) 18D, but as 9.3, 12 using PowerPlex (R) Fusion. Sequencing results indicated that the shorter allele in the sample had a deletion (U31Tdel) at 31 nucleotides upstream of the repeat region (AGAT)(10). This deletion was located in the binding site of the published D5S818 forward primer in PowerPlex (R) 16 and was only 9 and 11 nucleotides downstream of our estimated 5' end position of D5S818 forward primer in GlobalFiler (R) and PowerPlex (R) 18D, respectively. We also examined the effect of primer length on the heterozygous peak balance in this sample.