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 ۱ (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 ۳۵۷ individuals from different ethnic groups (Fars, Lur, Arab, Kurd, Azeri, Gilak, Bandari, Jewish, Armani) and a group of patients with glucose-۶-phosphate dehydrogenase (G۶PD) disease using population genetics tools. For this purpose, haplotype and nucleotide diversity were determined using the DNASP ۵.۱۰ software. In addition, allelic variants and elucidating subpopulation haplogroups were investigated with the help of PhyloTree and HaploGrep ۲ software, respectively. Overall, this study identified ۳۱۶ different haplotypes. The Fars group had the highest number of samples and haplotypes, with ۱۱۴ samples and ۹۷ haplotypes, respectively. In addition, the lowest number of samples and haplotypes belonged to the Baluch group, with ۱۳ samples and ۱۱ haplotypes, respectively. In total, ۱۳۹ unique haplogroups were detected in the HVR-I region of mtDNA in the Iranian population, where H۲a۲a۱, J۱b, and H۲ were the most frequent across all subpopulations. The detected haplogroups belonged to ۲۰ macro-haplogroups. The majority of known haplogroups were of European origin. Pairwise comparisons between Iranian subpopulations indicated that ۲۳, ۱۷, ۱۷, and ۲۱ of the comparisons had very high, high, medium, and low levels of genetic differentiation. The maximum genetic differentiations were observed between the G۶PD 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.

کلیدواژه ها:

Genetic variation ، Haplogroups ، Mitochondrial DNA