Hemizygous Expression of Glucose-6-Phosphate Dehydrogenase in Erythrocytes of Heterozygotes for the Lesch-Nyhan Syndrome
- 1 January 1970
- journal article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 65 (1), 214-218
- https://doi.org/10.1073/pnas.65.1.214
Abstract
In women heterozygous for hypoxanthine guanine phosphoribosyl trasferase deficiency, the activity of this enzyme in the erythrocyte is usually normal. In a key kindred two such obligate heterozygotes were also heterozygous for glucose-6-phosphate dehydrogenase types A and B. The AB genotype was confirmed in one by assay of skin fibroblasts. Erythrocytes were exclusively of type B. These observations suggest the clonal origin of the hematopoietic system in these women from a primordial cell line with a single active X chromosome.Keywords
This publication has 10 references indexed in Scilit:
- An improved technique for the separation of glucose 6-phosphate dehydrogenase isoenzymes by disc electrophoresis on polyacrylamide gelBiochemical Genetics, 1969
- Developmental implications of multiple tissue studies in glucose-6-phosphate dehydrogenase-deficient heterozygotes.Proceedings of the National Academy of Sciences, 1968
- Lesch-Nyhan Syndrome Treated from the Early Neonatal PeriodPediatrics, 1968
- Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells.Proceedings of the National Academy of Sciences, 1968
- Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuriaLife Sciences, 1968
- X-Linked Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency: Heterozygote Has Two Clonal PopulationsScience, 1968
- Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine SynthesisScience, 1967
- A familial disorder of uric acid metabolism and central nervous system functionAmerican Journal Of Medicine, 1964
- A Mouse Translocation Suppressing Sex-Linked VariegationCytogenetic and Genome Research, 1964
- SEX-LINKED ELECTROPHORETIC DIFFERENCE IN GLUCOSE-6-PHOSPHATE DEHYDROGENASE1963