Portuguese population study with 16 Y-STR loci

Abstract

The aim of this study was to present a Portuguese Population Database of 214 Southern Portugal samples studied with 16 Y-STR loci including the eight minimal Y-STR haplotype—DYS19, DYS390, DYS391, DYS392, DYS393, DYS389I/II, DYS385 and other Y-STR loci—GATA A7.1 (DYS460), GATA C4, GATA A7.2 (DYS461), GATA A10, GATA H4, DYS437, DYS438 and DYS439. In this study, 209 different haplotypes could be defined and 205 haplotypes were found just once. This database has a discrimination power of 97.7%, a haplotype diversity of 99.6% and 2.3% of shared haplotypes. Some samples do not match any sample in the Y-STR Haplotype Reference Database which assigned specific region characteristics to these population samples. Forty-three alleged father–child non-exclusion cases were also studied and two possible mutations have been detected in DYS439 and DYS393. Complex paternity investigation cases without alleged father have also been studied. In an autosomal STR exclusion case, the same 16 Y-STR haplotype was obtained between the excluded alleged father and the child.