engleski

Genetic analysis of the glucosa-6-phosphate dehydrgenase deficiency in a Southern Croatia

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. G6PD Mediterranean is caused by a C-->T transition at nucleotide 563, is characterized with less than 10% of normal enzyme activity and is classified as severe G6PD deficiency. Nineteen unrelated males from Southern Croatia with severe G6PD deficiency were tested, by enzyme digestion, for the presence of the Mediterranean mutation. Individuals with G6PD Mediterranean were further screened for the silent C-->T transition at nucleotide 1311. Four of the nineteen individuals were positive for the Mediterranean mutation (21%) and all four had the silent mutation.

enzyme deficiency; genetics

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