A paternal mutation in the Penta D STR locus

Abstract

In the field of paternity testing, inconsistencies between tested individuals can point to non-paternity or the presence of a mutation or mutations. We report on a case where one inconsistency was observed between a putative father and his daughter following routine STR typing using Powerplex-16 (Promega) and SGM Plus (Applied Biosystems). A three-step mutation was detected in the Penta D STR locus. A paternity index of 99.9999% was obtained. Following the additional analysis of over 50 different independent tests and the testing of other family members, no further inconsistencies were detected.