Red Cell Phosphoglucomutase Polymorphism: I. Enzyme Activity of Different Red Cell PGM Phenotypes

The red cell PGM activities have been determined in 95 individuals with PGM₁1 phenotype, in 86 with PGM₁2–1 and in 18 with PGM₁2 phenotype. The average activities of these three groups were similar, a finding which strongly suggests that the measurable activities associated with the two common PGM₁...

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Bibliographic Details
Published in:Human heredity 1970, Vol.20 (1), p.86-93
Main Authors: Modiano, G., Scozzari, R., Gigliani, F., Santolamazza, C., Afeltra, P., Frattaroli, W.
Format: Article
Language:English
Subjects:
Electrophoresis
Erythrocytes - enzymology
Gene Frequency
Genetic Variation
Humans
Phenotype
Phosphoglucomutase
Polymorphism, Genetic
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Summary:The red cell PGM activities have been determined in 95 individuals with PGM₁1 phenotype, in 86 with PGM₁2–1 and in 18 with PGM₁2 phenotype. The average activities of these three groups were similar, a finding which strongly suggests that the measurable activities associated with the two common PGM₁ alleles are identical. The PGM phenotype has been determined in 389 samples of blood from Rome. All of them were PGM₂1. One variant PGM₁ pattern has been found corresponding to the PGM₁6–1 phenotype first described by Hopkinson and Harris [1966]. The PGM₁ gene frequencies were: $PGM_1^1\, = \,0.712;\,PGM_1^2\, = \,0.287;\,PGM_1^6\, = \,0.001$.
ISSN:0001-5652
1423-0062
DOI:10.1159/000152298