engleski

Maternal Genetic Heritage of Two Croatian Regions – Southern Dalmatia and Žumberak Province

Croatia is known in the world of population genetics for its many island isolates with low level of heterozygosity and high level of inbreeding that have already been extensively studied. We have analyzed maternal genetic variation of two Croatian regions, Southern Dalmatia (Islands of Mljet and Lastovo and the city of Dubrovnik) and the Žumberak province (northern Croatia), which also offers an interesting genetic story based on its turbulent demographic history and the presence of Uskoks. Mitochondrial DNA polymorphisms were explored in 68 inhabitans from Mljet, 51 from Lastovo, 181 from the coastal city of Dubrovnik and 81 from Žumberak. All mtDNA detected haplogroups were of typical European origin. However, the frequency distribution of their subclades differed to a certain extent from other Croatian and European populations. Island of Mljet has the lowest reported haplotype and nucleotide diversity recorded among Croatian isolates and Island of Lastovo a new sublineage of a usual quite rare U1b clade. On Žumberak, subhaplogroups H12, H14, J2 and U2e, relatively rare (<2.5%) in other neighboring populations, make 1/3 of maternal genetic heritage and based on Fst values the region shows the closest connection to Slovenians. Our results obtained for the insular populations can be explained by the effect evolutionary forces have on the genetic structure, which is in line with the specific demographic histories of the islands. Additional research value of these two island isolates is also the appearance of certain Mendelian disorders, highlighting their importance in epidemiological studies. We can also conclude that the Uskoks from Žumberak developed some unique haplotypes and elevated haplogroup frequencies during their genetic history probably due to population bottlenecks and the accompanying effect of genetic drift. However, it seems their recent genetic history (the last four centuries) has had more impact on their maternal genetic landscape than the earlier historical migrations, since they are most closely related to the neighboring Slovenians.

mtDNA; Dalmatia; Žumberak; genetic drift; demography

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