تعیین مولکولی جهش مدیترانه (G6PD) در شمال غرب ایران

Title

Molecular Identification of Mediterranean Mutation in Patients with Deficiency of Glucose-6-Phosphate Dehydrogenase (G6pd) in North West of Iran

English Abstract

Glucose-6-phosphate dehydrogenase (G6PD) is a highly polymorphic enzyme that is encoded by human X-linked gene.G6PD deficiency is the most common enzymopathy in human with approximately 400 million people affected worldwide. According to the previous studies, Mediterranean mutation (C563T) is one of the most common G6PD enzyme mutations in Iranian population with a prevalence range of %63 to %86/4.This study was conducted in order to determine Mediterranean mutation, through molecular method ,in the population of the North-west of Iran. In this study, by Rapid Genomic DNA Extraction (RGDE) method, from 77 blood samples of unrelated male and female patients with genetic deficiency of G6PD, DNA was extracted and after digestion by MboII enzymes, in order to search for Mediterranean mutation, they were analyzed by means of PCR-RFLP and sequencing methods.Of the 77 patients, 48 patients (37 male, 11 female) had a Mediterranean mutation frequency of 62/3 %. 29 patients (37/7%) had mutations other than Mediterranean type.This study revealed that G6PD is the most common mutation in Iranian North-west population. Further studies are recommended to identify the mutation type of other varieties.

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