6-Phosphogluconate Dehydrogenase: Hemizygous Manifestation in a Patient with Leukemia
- 10 January 1969
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 163 (3863), 194-195
- https://doi.org/10.1126/science.163.3863.194
Abstract
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.Keywords
This publication has 8 references indexed in Scilit:
- Direct evidence for presence of Ph-1 chromosome in erythroid cells.BMJ, 1968
- Inherited quantitative variations of human phosphogluconate dehydrogenaseAnnals of Human Genetics, 1967
- Genetics of Starch-Gel Electrophoretic Variants of Human 6-Phosphogluconic Dehydrogenase: Population and Family Studies in the United States and in MexicoNature, 1966
- Erythrocyte Phosphogluconate Dehydrogenase PolymorphismNature, 1966
- DNA Contents of Chromosome Ph 1 and Chromosome 21 in Human Chronic Granulocytic LeukemiaScience, 1964
- The Distribution of the Philadelphia Chromosome in Patients with Chronic Myelogenous LeukemiaBlood, 1963
- Human Red-cell Phosphogluconate DehydrogenasesNature, 1963
- Chromosomal Alteration of Erythropoietic Cells in Chronic Myeloid LeukemiaActa Haematologica, 1963