6-phosphogluconate dehydrogenase: hemizygous manifestation in a patient with leukemia.
In a study of 41 patients with chronic myelocytic leukemia, two were found to have the 6-phosphogluconate dehydrogenase heterozygous phenotype A-B, and two had the phenotype characteristic of Pd(B) homozygosity. Since one of the two with Pd(B) homozygosity was the mother of two children with the A phenotype, it was presumed that she carried a Pd(A) gene not expressed in her blood cells. his was confirmed by electrophoretic analysis of her fibroblasts, which had the A-B phenotypic pattern. Gene deletion is considered to be the most likely explanation.
D000483:Alleles; D002869:Chromosome Aberrations / Q000201:enzymology*; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D003582:Cytogenetics; D004586:Electrophoresis; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007951:Leukemia, Myeloid / Q000201:enzymology* / Q000235:genetics*; D007962:Leukocytes / Q000201:enzymology; D010641:Phenotype; D010734:Phosphogluconate Dehydrogenase / Q000097:blood*
D010734:Phosphogluconate Dehydrogenase