Mutation Analysis of Autosomal STR Loci Commonly Used in Paternity Testing in Bosnia and Herzegovina

Abstract

Mutation analysis in forensic genetics and occurrence of mutations at short-tandem repeat (STR) loci, are very important in paternity testing and precise elucidation of obtained genetic profiles. To determine these locus-specific mutations in Bosnian-Herzegovinian population and their rate, 15 or 22 autosomal loci were typed using PowerPlex 16 and PowerPlex Fusion systems. In total, 1253 individuals within 583 parenthood testing cases were profiled at the Institute for Genetic Engineering and Biotechnology, University of Sarajevo during the period from 2009-2018. Out of total cases, in 13 cases 14 mutations were discovered at 11 loci. Among all tested DNA profiles two mutations occurred at D8S1179, D18S51 and FGA loci each, and one mutation at PENTA D, D3S1358, CSF1P0, D21S11, D5S818, vWA, D16S539, PENTA E. Mutation rates were calculated for 11 loci and were in consistency with mutation rates reported for correspondent locus. In our study, one mutation at locus PENTA D derives from maternal source. Also in one trio paternity case two single-step mutations at loci D16S539 and D18S51 were observed. Our results confirmed mutation analysis is important in paternity testing and therefore much attention should be directed at their analysis