Molecular Identification of the Most Prevalent Mutationsof Glucose-6-Phosphate Dehydrogenase (G6pd)In Fars and Isfahan of Iran

Glucose-6-phosphate dehydrogenase (g6pd) in humans is in x-linkeddisorder, housekeeping enzyme and vital for the survival of every cell. it catalysesthe oxidation of glucose-6-phosphate to 6-phospho gluconat in the firstcommitted step of the pentose phosphate pathway, which provides cells withpentoses and reducing power in the form of nadph. nadph is required toprotect the cells against oxidative damage. the aim of this study was themolecular analysis of common g6pd mutations in the provinces of the fars andisfahan. the study of g6pd deficiency was performed on 96 patients with ahistory of favism, consisted of 34 samples from fars and 62 samples from isfahan.genomic dna with specific oligonucleotide primers followed by digestion withrestriction enzymes for known mutations such as; mediterranean, chatham,cosenza, aures, a-(202g-a/376a-g were carried out. the most common allelein iran was found to be the g6pd mediterranean (82.3%), followed by the g6pdchatham (8.3%) and none of the samples had cosenza or a-(g202a/a376g)mutation, and remained unknown (9.4%). further sequencing required to searchfor the other mutations among the remained samples (9.4%).