Genetic Polymorphisms of Mitochondrial Genome D-loop Region in Bakhtiarian Population by PCR-RFLP

The human mitochondrial DNA is a 16569 bp closed, circular molecule that was sequenced and mapped. The D-loop of mitochondrial DNA is a major control site for mtDNA expression and it is important in maternal inheritance. This region in different population is vary and contains essential transcription and replication elements and it could be used for detection of mother inheritance, and human evolution. The aim of present study was to determine the D-loop region polymorphism in Bakhtiarian population in southwest Iran. The blood samples of 168 healthy people of Bakhtiarian population in Iran were collected and total DNA was extracted and then, mtDNA D-loop region was amplified by PCR using specific primers. Restriction fragment length polymorphism (RFLP) was analyzed in PCR products by Hae III and Alu I restriction endonuclease. Amplified fragments for mtDNA D-loop region on 1% agarose gel revealed a fragment of about 1024 bp. The results of this study showed 5 restriction patterns for Hae III enzyme (with 1 heteroplasmy) and 2 restriction patterns for Alu I enzyme (with 2 heteroplasmies) in Bakhtiarian population. The findings showed a low level of genetic polymorphism in D-loop region and it is related to high kinship marriages and low range of migration in Bakhtiarian population. Keywords : mtDNA, D-loop region, RFLP, Polymorphism, Bakhtiarin population, Iran