Molecular Surveying of the Common Variants of Glucose 6-Phosphate Dehydrogenase Gene in Deficient Patients

Glucose 6-phoshphate dehydrogenase is X-chromosome linked that expressed in all tissues. This is the first enzyme of pentose phosphate pathway were 5-carbon sugar Ribose and NADPH were synthesized by coupled oxidation /reduction reactions and this enzyme is a highly polymorphic enzyme in humans. G6PD deficiency are shown to be the cause of haemolytic effect of Fava beans and primaquine. It soon became apparent that G6PD deficiency was a widespread genetic defect and hereditary deficiency of G6PD turned out to be among the most common genetic disorders, affecting more than 400 million people worldwide. G6PD deficiency is actually the most common clinically important enzyme defect. In this study, we have analyzed peripheral blood samples of 119 patients with a history of favism in Kerman and Yazd in central part of Iran. DNA was extracted from leukocyte and analyzed for four known G6PD mutations (Mediterranean, Chatham, Cosenza and A-(202)) by PCR-RFLP technique. The results showed that Mediterranean mutation at nt563(C-A) is the most predominant mutation in this area 63.5% (Kerman: 63%, Yazd: 64%) and 1.68% of patients had Chatham mutations but none of samples was found to have Cosenza and A-(202) mutations. In this paper, we also try to document other disorders such as Malaria in mentioned patients.