A silent allele in the locus D5S818 contained within the PowerPlex (R) 21 PCR Amplification Kit

作者：Chen, Ling; Tai, Yunchun; Qiu, Pingming; Du, Weian; Liu, Chao^*

来源：Legal Medicine, 2015, 17(6): 509-511.

DOI：10.1016/j.legalmed.2015.10.012

• Forensic science
• Short tandem repeat
• Paternity test
• Silent allele
• Single locus mismatch
• D5S818

Three paternity tests cases were found with a single locus mismatch at the locus D5S818 with PowerPlex (R) 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.

• 出版日期2015-11
• 单位南方医科大学