Molecular Identification of the Most Prevalent Mutation of Glucose-6-Phosphate Dehydrogenase Gene in Deficient Patients in Sistan and Balochestan Province of Iran

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) in humans is an X-chromosome-linked disorder and housekeeping enzyme, vital for the survival of every cell. It catalyses the oxidation of glucose-6-phosphate to 6-phospho gluconate in the first committed step of the pentose phosphate pathway, which provides cells with pentoses and reducing power in the form of NADPH. NADPH is required to protect the cells (via glutathione and catalase) against oxidative damage. In this paper we have analyzed the G6PD gene in 92 patients with history of favism. The extracted DNA was analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) for known G6PD mutations such as; Mediterranean, Chatham and Cosenza. The results determined that, from the total 92 samples, 74 had G6PD Mediterranean (80.42%) and 2 had G6PD Chatham (2.17%), and Cosenza mutation was not observed (17.43%). G6PD Mediterranean was the most prevalent mutation in Iran and other countries in tropical and subtropical areas. The frequency of Chatham was low in the Sistan and Balochestan province in comparison with other provinces of Iran. In this paper we also try to document the commonly known mutations in patients with G6PD deficiency, with a history of favism