Y-chromosome 10 locus short tandem repeat haplotypes in a population sample from Sicily Italy

This study reports the first data on Y-chromosome-specific short tandem repeat (STR) haplotype frequencies, in the population of the island of Sicily (Italy), based on the combination of alleles at the following 10 Y-chromosome loci DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, and DYS439. In a total of 117 males, 108 unique haplotypes were observed, with 99 of them being singletons. The 10 locus haplotypes generated a diversity value of 0.9987 and discriminatory power (DP) of 92.30%. The data on the seven of the 10 polymorphisms (DYS19; DYS389I; DYS389II; DYS390; DYS391; DYS392 and DYS393) that have been most studied in worldwide populations were compared with similar data from neighboring Mediterranean populations in order to address the question of shared ancestry, gene flow and population affinities. Overall, results indicate Sicily is closest genetically to the mainland Italian population but also with evidence of a significant African component in the male gene pool. These findings are consistent with those obtained from other genetic markers (autosomal and mitochondrial DNA as well as the classical blood groups) and also with the recorded settlement history (either peaceful or due to invasion) of the island.