The molecular biology of G6PD variants and other red cell enzyme defects.
Modern techniques of molecular biology have made it possible to identify mutations in a number of different hereditary red cell enzyme defects. Most of the studies have been performed in glucose-6-phosphate dehydrogenase deficiency, where a large number of point mutations have been identified. The same mutations are encountered repeatedly, even in patients with defects that were thought, on the basis of biochemical properties of the residual enzyme, to be distinct. A beginning has been made in identifying mutations in a few other red cell enzyme defects.
Beutler
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Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037.
D004912:Erythrocytes / Q000201:enzymology; D014644:Genetic Variation / Q000235:genetics*; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
D005954:Glucosephosphate Dehydrogenase