Subtle adjustments of the glucose-6-phosphate dehydrogenase (G6PD) mutation database and reference sequence.
نویسندگان
چکیده
منابع مشابه
MOLECULAR IDENTIFICATION OF THE MOST PREVALENT MUTATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) GENE IN DEFICIENT PATIENTS IN GILAN PROVINCE
Glucose-6-Phosphate Dehydrogenase (G6PD) is a cytosolic enzyme which its main function is to produce NADPH in the red blood cells by controlling the step from Glucose-6-Phosphate to 6-Phospho gluconate in the pentose phosphate pathway. G6PD deficiency is the most common X-chromosome linked hereditary enzymopathy in the world, that result in reduced enzyme activity and more than 125 different mu...
متن کاملMolecular Identification of the Most Prevalent Mutation of Glucose-6-Phosphate Dehydrogenase Gene in Deficient Patients in Sistan and Balochestan Province of Iran
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 cell...
متن کاملMolecular Characterization of Cosenza Mutation among Patients with Glucose-6-Phosphate Dehydrogenase Deficiency in Khuzestan Province, Southwest Iran
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common hereditary enzymatic disorders in human, increases the vulnerability of erythrocytes to oxidative stress. It is also characterized by remarkable molecular and biochemical heterogeneity. According to previous investigations, G6PD Cosenza (G1376C) is a common G6PD mutation in some parts of Iran. Therefore in the present...
متن کاملGlucose 6-Phosphate Dehydrogenase Deficiency in Tehran, Zanjan and Sistan-Balouchestan Provinces: Prevalence and Frequency of Mediterranean Variant of G6PD
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy affecting about 400 millionpeople worldwide. The distribution of G6PD deficiency and the molecular genetics of this enzyme vary widelyamong different ethnic groups. The aim of this study was to find out the frequency of G6PD deficiency andcharacterize the Mediterranean type mutation in deficient individuals ...
متن کاملMolecular Identification of the Most Prevalent Mutations of Glucose-6-Posphate Dehydrogenase (G6PD) Gene in Deficient Patients in Khorasan Province of Iran
Glucose-6-phosphate dehydrogenase (G6PD) enzyme catalyses the first step in pentose phosphate pathway (conversion of glucose-6-phosphat to 6-phospho gluconat) which provides cells with pentoses and reduction power in the form of NADPH. In the present study we have analyzed the G6PD gene mutations in 76 patients with a history of favism in Khorasan province in Iran. DNA samples were analyzed for...
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عنوان ژورنال:
- Blood cells, molecules & diseases
دوره 52 1 شماره
صفحات -
تاریخ انتشار 2014