Y-chromosomal STR haplotypes in Sicily

The reconstruction of the genetic history of Sicily is extremely difficult, because of the complexity of human movements and settlements that interested this area of the Mediterranean Sea in prehistorical and historical times. Previous studies, based on classical and DNA markers (autosomal STRs and mtDNA), are discordant regarding the presence of genetic heterogeneity within the island, some of them suggesting a geographical pattern of differentiation following a longitudinal (East- West) axis. Analysis of Y-chromosome biallelic polymorphisms showed a haplogroup frequency distribution similar to Southern Italy and Greece. In this study, Y-STRs currently used to define the minimal haplotype employed in the “Y-STR haplotype reference database” (DYS19, DYS389I-II, DYS390, DYS391, DYS392, DYS393, and DYS385) were typed in 215 unrelated males from Sicily. Individuals represented in the population sample were chosen from both geographically and historically distinct areas of the island: Trapani, Santa Ninfa, Alcamo (Western Sicily); Sciacca, Caccamo, Mazzara del Vallo (Central Sicily); Troina, Ragusa, Piazza Armerina (Eastern Sicily). Comparison of haplotype distributions was carried out between different sampling regions and with neighbouring Mediterranean populations. The obtained results, combined with information from Y biallelic markers, will hopefully contribute to the understanding of the genetic landscape of the island. Furthermore, a geographically detailed reference database of Sicilian Y-STR minimal haplotypes can be of practical help to forensic scientists performing paternity testing and human identification.