title: A silent allele in the locus D5S818 contained within the PowerPlex®21 PCR Amplification Kit.
abstract: Three paternity tests cases were found with a single locus mismatch at the locus D5S818 with PowerPlex®21 PCR Amplification Kit (Promega). Forward and reverse primers were redesigned to type the samples again and to evaluate if there were alleles dropped out. The results showed the existence of a silent allele 12 in all the three families, due to a point mutation that changed cytosine to adenine at 90 nucleotides upstream from the 5' end of the AGAT repeat sequences in all the six individuals. A single locus mismatch due to a silent allele may occur in any locus using any kit. Therefore, we recommend using multiple kits to confirm the results in paternity testing cases with mismatches, especially when there is a single locus mismatch with homozygote involved.
authors.affiliation: Department of Forensic Medicine, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong Province 510515, PR China.
authors.forename: Ling
authors.initials: L
authors.lastname: Chen
authors.affiliation: Department of Forensic Medicine, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong Province 510515, PR China.
authors.forename: Yunchun
authors.initials: Y
authors.lastname: Tai
authors.affiliation: Department of Forensic Medicine, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong Province 510515, PR China.
authors.forename: Pingming
authors.initials: P
authors.lastname: Qiu
authors.affiliation: Department of Forensic Medicine, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong Province 510515, PR China.
authors.forename: Weian
authors.initials: W
authors.lastname: Du
authors.affiliation: Department of Forensic Medicine, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong Province 510515, PR China; Guangzhou Forensic Science Institute, Guangzhou, Guangdong Province 510030, PR China. Electronic address: liuchaogzf@163.com.
authors.forename: Chao
authors.initials: C
authors.lastname: Liu
mesh_terms: D000483:Alleles; D002681:China; D016172:DNA Fingerprinting / Q000379:methods*; D053803:Forensic Genetics; D056426:Genetic Loci; D006801:Humans; D018895:Microsatellite Repeats; D010334:Paternity; D016133:Polymerase Chain Reaction / Q000295:instrumentation* / Q000379:methods
keywords: D5S818; Forensic science; Paternity test; Short tandem repeat; Silent allele; Single locus mismatch