6-Phosphogluconate Dehydrogenase: Hemizygous Manifestation in a Patient with Leukemia

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Science  10 Jan 1969:
Vol. 163, Issue 3863, pp. 194-195
DOI: 10.1126/science.163.3863.194


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 PdB homozygosity. Since one of the two with PdB homozygosity was the mother of two children with the A phenotype, it was presumed that she carried a PdA 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.

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