Y-CHROMOSOME STR LOCI IN SARDINIA AND CONTINENTAL ITALY REVEAL ISLANDER-SPECIFIC HAPLOTYPES

Six Y-linked tetranucleotide microsatellites were typed in a sample of continental Italians and Sardinians. Significant differences in allel e distributions were found between peninsular Italy and the island, Pa tterns of distinct allelic associations were evident in Sardinia and i n the mainland, STR haplotypes in a subset of Sardinian chromosomes we re monophyletically related and indicated that additions/deletions of a single tetranucleotide unit had to sequentially occur within a histo rical time-scale (about 9,000 years), Assumptions on both the time ela psed since the peopling of the island and the number of mutational eve nts led us to estimate (by three different methods) a rate of 2.7-11 x 10(-4) mutations per generation per locus - at the upper end of the r ange of values reported in the literature.