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

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

doi:10.1016/j.legalmed.2009.12.002

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

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

Social Medicine

Research output: Contribution to journal › Article › peer-review

16 Citations (Scopus)

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.

Original language	English
Pages (from-to)	94-96
Number of pages	3
Journal	Legal Medicine
Volume	12
Issue number	2
DOIs	https://doi.org/10.1016/j.legalmed.2009.12.002
Publication status	Published - Mar 2010

All Science Journal Classification (ASJC) codes

Pathology and Forensic Medicine
Issues, ethics and legal aspects

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title = "A silent allele in the locus D19S433 contained within the AmpFℓSTR{\textregistered} Identifiler{\texttrademark} PCR Amplification Kit",

abstract = "We present two cases where a single locus mismatch was found in the locus D19S433 using the AmpFℓSTR{\textregistered} Identifiler{\texttrademark} 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.",

author = "Akiko Tsuji and Atsushi Ishiko and Takahiro Umehara and Yosuke Usumoto and Wakako Hikiji and Keiko Kudo and Noriaki Ikeda",

year = "2010",

month = mar,

doi = "10.1016/j.legalmed.2009.12.002",

language = "English",

volume = "12",

pages = "94--96",

journal = "Legal Medicine",

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T1 - A silent allele in the locus D19S433 contained within the AmpFℓSTR® Identifiler™ PCR Amplification Kit

AU - Tsuji, Akiko

AU - Ishiko, Atsushi

AU - Umehara, Takahiro

AU - Usumoto, Yosuke

AU - Hikiji, Wakako

AU - Kudo, Keiko

AU - Ikeda, Noriaki

PY - 2010/3

Y1 - 2010/3

N2 - 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.

AB - 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.

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