D5S818 Typing Discrepancy Between PowerPlex(®) Fusion and Other STR Kits Including GlobalFiler(®) Caused by a One-base Deletion in 31 Nucleotides Upstream of the Repeat Region.
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(®) , Identifiler(®) Plus, GlobalFiler(®) , PowerPlex(®) 16HS, and PowerPlex(®) 18D, but as 9.3, 12 using PowerPlex(®) 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(®) 16 and was only 9 and 11 nucleotides downstream of our estimated 5' end position of D5S818 forward primer in GlobalFiler(®) and PowerPlex(®) 18D, respectively. We also examined the effect of primer length on the heterozygous peak balance in this sample.
First Department of Forensic Science, National Research Institute of Police Science, 6-3-1, Kashiwanoha, Kashiwa, Chiba, 277-0882, Japan.
Koji
K
Fujii
First Department of Forensic Science, National Research Institute of Police Science, 6-3-1, Kashiwanoha, Kashiwa, Chiba, 277-0882, Japan.|Forensic Science Laboratory, Kyoto Prefectural Police HQ, 85-3, 85-4, Shimodachiuri-dori, Kamanza-higashiiru, Yabunouchi-cho, Kamigyo-ku, Kyoto, 602-8550, Japan.
Yasuki
Y
Iwashima
First Department of Forensic Science, National Research Institute of Police Science, 6-3-1, Kashiwanoha, Kashiwa, Chiba, 277-0882, Japan.
Haruhiko
H
Watahiki
First Department of Forensic Science, National Research Institute of Police Science, 6-3-1, Kashiwanoha, Kashiwa, Chiba, 277-0882, Japan.
Yusuke
Y
Mita
First Department of Forensic Science, National Research Institute of Police Science, 6-3-1, Kashiwanoha, Kashiwa, Chiba, 277-0882, Japan.
Tetsushi
T
Kitayama
First Department of Forensic Science, National Research Institute of Police Science, 6-3-1, Kashiwanoha, Kashiwa, Chiba, 277-0882, Japan.
Hiroaki
H
Nakahara
First Department of Forensic Science, National Research Institute of Police Science, 6-3-1, Kashiwanoha, Kashiwa, Chiba, 277-0882, Japan.
Natsuko
N
Mizuno
First Department of Forensic Science, National Research Institute of Police Science, 6-3-1, Kashiwanoha, Kashiwa, Chiba, 277-0882, Japan.
Kazumasa
K
Sekiguchi
D000483:Alleles; D016172:DNA Fingerprinting; D044707:Forensic Sciences; D006801:Humans; D018895:Microsatellite Repeats; D009711:Nucleotides; D016133:Polymerase Chain Reaction
D009711:Nucleotides
D5S818; DNA typing; GlobalFiler; PowerPlex Fusion; deletion; discordance; discrepancy; forensic science; short tandem repeat