بررسی فراوانی پلی مورفیسم ژنتیکی (C4326G) Leu432Val ژن 1B1CYP در یک جمعیت سالم استان مازندران

Background and purpose: CYP1B1 is involved in the metabolism of exogenous and endogenous substrates and plays a key role in hormone and xenobiotic induced carcinogenesis. Polymorphisms in CYP1B1 could result in modifications in its enzyme activity and are known to be associated with cancer susceptibility related to environmental toxins and hormone exposure. Moreover, the association of CYP1B1 polymorphisms with glaucoma has been reported. In the present study, we determined the frequency of Leu432Val (G4326C) polymorphism of this gene in a healthy population from Mazandaran province of Iran. Materials and methods: A total of 150 unrelated healthy subjects from Mazandaran province, residing in Sari, coming for blood donating at Sari Blood Transfusion Center were enrolled. A total of 5 ml of peripheral blood was taken from individuals. Genomic DNA was extracted using DNG+Blood DNA kit. The polymerase chain reaction–restriction fragmentlength polymorphism method was used for the detection of G4326C single nucleotide polymorphism in each subject. Results: The frequencies of the GG (Val/Val), CG (Leu /Val) and CC (Leu/Leu) genotypes were as 12%, 40.7% and 47.3%, respectively (P < 0.05). The frequency of G allele in Iranian population (Mazandaran province, Sari) was 32.3% and the frequency of C allele was 67.7%. Conclusion: Results of the present study might be important in understanding the distribution of Leu432Val CYP1B1 polymorphism in the Mazandaran province of Iran. Moreover, these results could be helpful in predicting the risk of cancer and glaucoma.