From Genome to Life:

KASPERAVICIUTE Dalia

Vilnius University, Human Genetics Centre, Medical Faculty, Santariskiu 2, Vilnius LT-2021, Lithuania

title: Analysis of the human mitochondrial DNA variation in the Lithuanian population Dalia Kasperaviciute, Vaidutis Kucinskas Human Genetics Centre, Vilnius University, Lithuania

Dalia Kasperaviciute, Vaidutis Kucinskas The Lithuanians and Latvians are the only two Baltic cultures that survived until today. There are conflicting anthropological findings regarding the process of neolithization in the Baltic region and formation of the Baltic tribes. However, since Neolithic period the native inhabitants of the present-day Lithuanian territory have not been replaced by any other ethnic group. Therefore the genetic characterization of the present day Lithuanians may shed more light on the early history of the Balts. We have analysed 120 DNA samples from two Lithuanian ethnolinguistic groups (Aukstaiciai and Zemaiciai) using direct sequencing of the first hypervariable segment (HVI) of the control region of the mitochondrial DNA (mtDNA) and restriction enzyme digestion for the polymorphic site 00073. On the basis of specific nucleotide substitutions the obtained sequences were classified to mtDNA haplogroups. This revealed the presence of all European haplogroups in the Lithuanian sample, including those that expanded through Europe in the Palaeolithic and those whose expansion occurred during the Neolithic. In general, the mtDNA lineages reflecting more ancient demographic expansion seem to be more frequent, which is compatible with anthropological findings that neolithization in the Baltic region has been largely indigineous process. Molecular diversity indexes (gene diversity 0.97, nucleotide diversity 0.012 and mean number of pairwise differences 4.5) were within the range usually reported in European populations. No significant differences between Aukstaiciai and Zemaiciai subgroups were found, however some slight differences need further investigation.

Keywords: haplogroup, hypervariable region I, Lithuanian, mitochondrial DNA, population