Electrophoretic and kinetic studies of human erythrocytes deficient in pyrimidine 5?-nucleotidase
| Autor: | Raymonde Rosa, Bernard Dreyfus, Jean Rosa, Colette Valentin, Henri Rochant |
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| Rok vydání: | 1977 |
| Předmět: |
Electrophoresis
Male Hemolytic anemia Erythrocytes Pyrimidine Basophilic stippling Anemia Anemia Hemolytic Congenital chemistry.chemical_compound Nucleotidases Genetics medicine Humans Nucleotide Genetics (clinical) chemistry.chemical_classification biology Red Cell Glutathione medicine.disease Enzyme assay Pedigree chemistry Biochemistry biology.protein Female Pyrimidine Nucleotides |
| Zdroj: | Human Genetics. 38:209-215 |
| ISSN: | 1432-1203 0340-6717 |
| Popis: | A new case of a defect in red cell pyrimidine 5'-nucleotide (P5N) activity was found in a large family from Guadeloupe in the West Indies. The propositus presented a characteristic hemolytic anemia with red cell basophilic stippling, an increased GSH level, and a shift of the peak in absorbance of nucleotide. The enzyme activity from the deficient red cells differed from that of the normal. The P5N activity of the deficient red cells was about 14% that of normal. The electrophoretic pattern of P5N activity of the deficient red cells was distinct from that of the control in terms of its Km and of the effects of pH on its maximum activity and heat stability. The significance of such differences is discussed. |
| Databáze: | OpenAIRE |
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