Molecular investigation of Mediterranean glucose-6-phosphate dehydrogenase in orth West of Iran

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme deficiency affecting more than 400 million people worldwide.This enzyme catalyse the first step in pentose phosphate pathway (conversion of glucose-6- phosphate to 6-phosphogluconat) with the concomitant reduction of NADP+. This pathway is an important source of NADPH. By preserving and regenerating reduced form of glutathione, NADPH plays a major role in a cell’s stability to withstand oxidative stress. The aim of this study was molecular identification of Mediterranean mutation in Glucose-6- phosphate dehydrogenase in affected patients in North West of Iran. In the present study,from 90 blood samples of unrelated male and female patients, DNA was extracted by Rapid Genomic DNA Extraction (RGDE) method.In order to search for Mediterranean mutation, PCR-RFLP and sequencing methods were used.This study, revealed that 61 samples out of 90 have the Mediterranean mutation (67.77%).the data indicate that the G6PD Mediterranean mutation is the most common in North West of Iran.

Keywords:

G6PD , Mediterranean , mutation , orth West of Iran