Exploring mitochondrial DNA variation in the Italian Peninsula

Abstract 

The genetic structure of Italy appears to be mainly shaped by pre-Roman historical events. The studies carried out so far show a major North–South cline, possibly the result of two distinct main demic processes: the first colonisation of the area during the Palaeolithic period and the subsequent Neolithic expansion from the Middle East. However, the demographic contribution of these events is still a matter of debate. We here report mitochondrial DNA (mtDNA) data from nine population groups covering the main Italian regions: Central Liguria (N=50), East Friuli (N=51), South Latium (N=48), Central Marche (N=53), West Calabria (N=50), Central Campania (N=50), South Apulia (N=53), and two populations from Sicily (East and West Sicily, N=40 each). Haplogroup frequency spectra indicate clear differences at a regional level and haplotype sharing among populations is low.

Keywords: mtDNA, SNPs, Haplotypes, Italian Peninsula, Population substructure