A silent allele in the locus D19S433 contained within the AmpFℓSTR® Identifiler™ PCR Amplification Kit

Tsuji, Akiko; Ishiko, Atsushi; Umehara, Takahiro; Usumoto, Yosuke; Hikiji, Wakako; Kudo, Keiko; Ikeda, Noriaki

doi:10.1016/j.legalmed.2009.12.002

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Volume 12, Issue 2 , Pages 94-96, March 2010

A silent allele in the locus D19S433 contained within the AmpFℓSTR® Identifiler™ PCR Amplification Kit

Akiko Tsuji
- Department of Forensic Pathology and Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan
- Corresponding author.
Atsushi Ishiko
- Forensic Science Laboratory, Fukuoka Prefectural Police Headquarters, Fukuoka 812-8576, Japan
Takahiro Umehara
- Department of Forensic Pathology and Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan
Yosuke Usumoto
- Department of Forensic Pathology and Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan
Wakako Hikiji
- Department of Forensic Pathology and Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan
Keiko Kudo
- Department of Forensic Pathology and Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan
Noriaki Ikeda
- Department of Forensic Pathology and Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan

Received 5 November 2009; received in revised form 11 December 2009; accepted 11 December 2009. published online 28 January 2010.

Abstract

We present two cases where a single locus mismatch was found in the locus D19S433 using the AmpFℓSTR® Identifiler™ PCR Amplification Kit (Applied Biosystems) (Identifiler Kit) during paternity and maternity tests. This mismatch differed from the mismatch pattern where there is usually a one repeat difference. We designed forward and reverse primers so that they were positioned further away from the primer set contained in the Identifiler Kit. The results showed the existence of a silent allele 13 in both families, due to a point mutation that changed guanine to adenine at 32 nucleotides downstream from the 3′ end of the AAGG repeat sequences in all four members. A single locus mismatch due to a silent allele may occur in any locus using any kit. Accordingly, we should pay attention to this silent allele when carrying out human identification and parentage analysis.

Keywords: Silent allele, Single locus mismatch, Paternity test, Short tandem repeat, D19S433