tracing hypervariable region i (hvr-i) of mitochondrial dna in iranian ethnic groups

Genetic markers can confirm the role of ethnicity in forensic investigations. mitochondrial dna (mtdna) can be applied as a useful marker in forensic casework due to its maternal inheritance, high copy number, and strong persistence, even in degraded samples. therefore, the present study aimed to investigate the mtdna’s hypervariable region 1 (hvr-i) in individuals from different iranian ethnic groups/subpopulations. for this purpose, haplogroup frequencies of mtdna and the population genetic parameters in the hvr-i region of mtdna were evaluated in 357 individuals from different ethnic groups (fars, lur, arab, kurd, azeri, gilak, bandari, jewish, armani) and a group of patients with glucose-6-phosphate dehydrogenase (g6pd) disease using population genetics tools. for this purpose, haplotype and nucleotide diversity were determined using the dnasp 5.10 software. in addition, allelic variants and elucidating subpopulation haplogroups were investigated with the help of phylotree and haplogrep 2 software, respectively. overall, this study identified 316 different haplotypes. the fars group had the highest number of samples and haplotypes, with 114 samples and 97 haplotypes, respectively. in addition, the lowest number of samples and haplotypes belonged to the baluch group, with 13 samples and 11 haplotypes, respectively. in total, 139 unique haplogroups were detected in the hvr-i region of mtdna in the iranian population, where h2a2a1, j1b, and h2 were the most frequent across all subpopulations. the detected haplogroups belonged to 20 macro-haplogroups. the majority of known haplogroups were of european origin. pairwise comparisons between iranian subpopulations indicated that 23, 17, 17, and 21 of the comparisons had very high, high, medium, and low levels of genetic differentiation. the maximum genetic differentiations were observed between the g6pd and other ethnic groups. in general, this study indicated great genetic diversity in iranian subpopulations. further surveys can evaluate the relationship between this genetic diversity and important traits.