Haplotypes of mtDNA-HV1/HV2 in non-related individuals of caucasian population living in the Slovak Republic

Evaluation of the frequency index for mtDNA particular sequences in the Caucasian population is crucial for forensic practice. There are two hypervariable regions in the mtDNA D-loop, HV1 and HV2. Both of them, 610 bp altogether, were sequenced, 342 bp from the hypervariable region HV1 (16024–16365) and 268 bp from the hypervariable region HV2 (73–340). We have analyzed 374 randomly selected non-related individuals of the Caucasian population and 192 individuals of the Roma subpopulation living in Slovakia. The main goals of the work were to introduce and standardize methods of analysis of variability of the HV1 and HV2 regions of mtDNA for forensic use; to characterize the variability of mtDNA in the Slovakian population taking into account the subpopulations; classification of mtDNA profiles into haplotype groups, and comparison with other haplotype groups in Europe in the frame of phylogenetic studies.