alpha-Galactosidase isozymes in normal individuals, and in Fabry hemizygotes and heterozygotes. 1980

S A Sørensen, and L Hasholt

A method for staining of alpha-galactosidase with the synthetic substrate alpha-naphthyl-alpha-galactopyranoside after isoelectric focusing on gel slabs has been devised. Depending on the method used for cell extraction, at least seven isozymes could be detected in cell extracts of cultured fibroblasts from normal individuals. Thermal treatment revealed that both heat-stable and heat-labile isozymes occur in normal fibroblasts. The heat-labile isozymes were not detected in cells from Fabry hemizygotes and thus truly reflect products of the alpha-gal A locus. Three heat-stable isozymes observed in normal individuals were also found in Fabry heterozygotes and hemizygotes and are presumably determined by the alpha-gal B locus. The remaining isozymes were stained very weakly in the hemizygotes and were heat-stable. The relation of these isozymes to the A or B locus is uncertain. After treatment with neuraminidase the alpha-gal A isozymes could not be detected and one of the alpha-gal B isozymes appeared broader. The isozyme pattern observed in heterozygotes was almost identical to the normal one.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007525 Isoelectric Focusing Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point. Electrofocusing,Focusing, Isoelectric
D007527 Isoenzymes Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics. Alloenzyme,Allozyme,Isoenzyme,Isozyme,Isozymes,Alloenzymes,Allozymes
D008297 Male Males
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D005347 Fibroblasts Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. Fibroblast
D005696 Galactosidases A family of galactoside hydrolases that hydrolyze compounds with an O-galactosyl linkage. EC 3.2.1.-. Galactosidase
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes

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