engleski

Croatian genetic landscape - mitochondrial DNA perspective

Mitochondrial DNA variation was analyzed in a sample of 721 Croatians from the mainland and four Eastern Adriatic islands (Krk, Brac, Hvar, Korcula). The hypervariable segment I (HVS-I) of the control region of mtDNA was sequenced between nps 16024 and 16383 and a set of twenty one RFLP sites diagnostic for main Eurasian haplogroups was analyzed in order to confirm the exact haplogroup affiliation of mtDNA HVS-I lineages. This analysis yielded 27 maternal haplogroups with the highest predominance of haplogroup H (41%). The phylogenetic analysis of haplogroups showed extremely high number of haplotypes that confirm their heterogeneity as well as their early age ancestry. A finding of larger contribution of Paleolithic than Neolithic mtDNA markers confirms Paleolithic legacy of the majority of the investigated Croatian gene pool. Distribution of mtDNA Paleolithic and Neolithic markers corresponds to findings in geographically proximate populations. When mainland and island populations were considered separately, a pronounced effects of evolutionary forces, especially founder effect and genetic drift, mediated a specific distribution of mtDNA haplogroups on the islands. The greatest haplogroup diversity was noted in the mainland population, whereas the lowest in the island of Korcula. The results of the Exact test showed a statistically significant difference in mtDNA haplogroup frequency among all investigated populations.

Mitochondrial DNA; Paleolithic; Neolithic; Croatia

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