Glucose-6-phosphate dehydrogenase deficiency: genetic heterogeneity in Sardinia
- 1 May 1982
- journal article
- Published by Wiley in Annals of Human Genetics
- Vol. 46 (2) , 105-114
- https://doi.org/10.1111/j.1469-1809.1982.tb00701.x
Abstract
Glucose-6-phosphate dehydrogenase (G6PD) was partially purified from red blood cells of 44 Sardinian males with severe enzymatic deficiency and the variants characterized chromatographically and biochemically to see if there is genetic heterogeneity of the enzyme in Southern Sardinia. Three different variants associated with severe G6PD deficiency were identified: the common G6PD Mediterranean variant; G6PD Sassari, recently described by Testa et al. (1980), and a new variant that we have designated G6PD Cagliari. Family studies were carried out to demonstrate that these variants are due to the presence of different alleles.Keywords
This publication has 11 references indexed in Scilit:
- Genetic heterogeneity of "normal" human erythrocyte glucose-6-phosphate dehydrogenase: an isoelectrophoretic polymorphism.Proceedings of the National Academy of Sciences, 1979
- Genetic markers in Malaysians: Variants of soluble and mitochondrial glutamic oxaloacetic transaminase and salivary and pancreatic amylase, phosphoglucomutase III and saliva esterase polymorphismsHuman Genetics, 1978
- Heterogeneity of glucose-6-phosphate dehydrogenase deficiency in AlgeriaHuman Genetics, 1978
- Genetic variants of human erythrocyte glucose 6‐phosphate dehydrogenase: new variants in West Africa characterized by column chromatographyAnnals of Human Genetics, 1977
- Human glucose-6-phosphate dehydrogenase variants: a supplementary tabulationAnnals of Human Genetics, 1973
- Heterogeneous distribution of glucose-6-phosphate dehydrogenase variants with enzyme deficiency in the Markham Valley Area of New GuineaAnnals of Human Genetics, 1973
- Genetic diversity of the “Mediterranean” glucose-6-phosphate dehydrogenase deficiency phenotypeJournal of Clinical Investigation, 1971
- Isolation and purification of human erythrocyte glucose-6-phosphate dehydrogenase from small amounts of bloodBiochimica et Biophysica Acta (BBA) - Protein Structure, 1969
- Enzymic properties of different types of human erythrocyte glucose-6-phosphate dehydrogenase, with characterization of two new genetic variantsJournal of Clinical Investigation, 1968
- Different properties of glucose 6-phosphate dehydrogenase from human erythrocytes with normal and abnormal enzyme levelsBiochemical and Biophysical Research Communications, 1965