G6pd properties unknown people in diyarbakir determine of the mutant alleles g6pd Canton, Kaiping and Gaohe

Glucose 6-phosphate dehydrogenase (D-glucose 6-phosphate: NADP+ oxidoreductase, EC 1.1.1.49; G6PD) is the key enzyme which catalyzes first step of pentose phosphate metabolic pathway. Unique source of NADPH in erythrocyte is the pentose phosphate metabolic pathway and synthesis of NADPH decreases in G6PD deficiency. G6PD deficiency is disease inherited X-linked recessive. This disease is the most common human enzyme defect, being present in more than 400 million people worldwide. In turn, the enzyme displays nearly 400 variants, showing different kinetic properties. G6PD enzyme is necessary to maintain to reduced glutathione level in erythrocytes. Thus these cells are protected against oxidative stress. The deficiency of G6PD deficiency may result in hemolytic anemia due to drug toxication, infections during the neonatal period, consumption of beans and stress conditions.In this study, blood samples were taken from people previously unknown properties of G6PD and the blood in the DNA was isolated using DNA purification kits. G6PD genotypes were determined using real time PCR kits for the G6PD mutation. G6PD genotypes were determined by using Real Time PCR and G6PD mutation kits. In this study, electrophoretic variants related with enzyme deficiency were not observed.Keywords: Glukoz-6-phosphate dehydrogenase, G6PD, Hemolytic anemia, PCR, Real Time PCR, Mutation