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Glucose-6-phosphate dehydrogenase deficiency: genetic heterogeneity in Sardinia.
- Source :
-
Annals of human genetics [Ann Hum Genet] 1982 May; Vol. 46 (2), pp. 105-14. - Publication Year :
- 1982
-
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.
- Subjects :
- Chromatography, Ion Exchange
Erythrocytes enzymology
Genetic Variation
Glucosephosphate Dehydrogenase blood
Glucosephosphate Dehydrogenase genetics
Glucosephosphate Dehydrogenase Deficiency enzymology
Humans
Italy
Kinetics
Male
Pedigree
Polymorphism, Genetic
Glucosephosphate Dehydrogenase Deficiency genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0003-4800
- Volume :
- 46
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Annals of human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 7114788
- Full Text :
- https://doi.org/10.1111/j.1469-1809.1982.tb00701.x