Multiplex STR genotyping: comparison study, population data and new sequence information

A simultaneous study was performed using Perkin-Elmer Profiler Plus (PP)/GenePrint CTTv and Promega Powerplex 16 (P16) kits, which share 12 STR loci, in two population samples from North Portugal (N=110) and Mozambique (N=110). Population data for the three STRs included only in the Powerplex 16 kit (D16S539, Penta D and Penta E) are reported for both populations. No deviations from Hardy-Weinberg equilibrium were observed for all markers in both population samples. A comparative analysis between our data and Promega's (Caucasian-Americans and African-Americans) is also presented. Inconsistencies between genotypes obtained by both kits were detected for D5S818 (3/110 individuals from North Portugal) and D8S1179 (1/110 individuals from Mozambique) and are due to polymorphisms in the primer annealing regions. For D5S818 locus, the inconsistencies are due to a Promega primer annealing failure. In both populations, other point mutations outside the repeat region and structural differences from the consensus repeat motif were also detected. For D8S1179, the observed inconsistency is due to a Perkin-Elmer primer annealing failure. (C) 2003 Elsevier Science B.V. All rights reserved.