Sanger sequencing of mitochondrial HV1 region: Population data for Bosnia and Herzegovina

Purpose Mitochondrial DNA (mtDNA) is a lineage marker that is widely used in population genetics, forensics, migration tracking and population history, due to its stability, high copy number, size, and higher mutation rate when compared to nuclear DNA. Due to the lack of such studies, we aimed to report detailed population data for hypervariable region 1 (HV1) sequence for Bosnia and Herzegovina. Methods We performed Sanger sequencing in 294 unrelated individuals on an ABI PRISM® 3130 Genetic Analyzer, completed statistical analyses, and compared our sequences to the revised Cambridge reference sequence (rCRS). Results We identified 15 mutational SNP hotspots in the HV1 sequence, whose alternative allele frequencies were ranging from 2.04% for the position 16,189 to 20.75% for the position 16,311. Based on these 15 hotspots, we found 33 mtDNA haplotypes, whereby the most common haplotype was shared by 96 individuals (32.65% of the study population) and was identical to rCRS at all 15 positions. Additional four haplotypes were identified which differed from rCRS on positions other than 15 hotspots and they were all unique. Conclusion This is the first study reporting mtDNA mutational hotspots in the population of Bosnia and Herzegovina with associated haplotypes and statistical measures, thus providing background information for mtDNA sequencing application for human identification purposes, along with a brief description of previously published, limited data for mtDNA variation in this population. Future sequencing of HV2 would provide necessary additional information on the human genetic variation related to mtDNA in Bosnia and Herzegovina.