title: Acid alpha-glucosidase: a new polymorphism in man demonstrable by 'affinity' electrophoresis.
abstract: 1. A new polymorphism of the enzyme acid alpha-glucosidase is described. The three phenotypes, 1, 2-1 and 2, appear to be determined by two alleles alpha-GLU1 and alpha-GLU2 at an autosomal locus. The allele frequencies in Europeans are approximately alpha-GLU1 = 0-97 and alpha-GLU2 = 0-03. 2. The polymorphism is not detectable after electrophoresis on other support media (cellogel and agarose) and evidence is presented that the separation is effected by a difference in binding of the isozyme products of the two alleles to the support medium starch, which contains alpha-1-4 and alpha-1-6 linked glucose units. We have called this type of separation affinity electrophoresis. 3. No difference in the kinetic properties of the two enzymes could be demonstrated using 4-methyl umbelliferyl alpha-D-glucopyranoside and maltose as substrates or maltose and turanose as inhibitors, but it is possible that differences might exist when macromolecular substrates are used. 4. One individual with the rare homozygous genotype has been found. There is at present no indication that this genotype is associated with a pathological condition.
mesh_terms: D000483:Alleles; D004587:Electrophoresis, Agar Gel; D004592:Electrophoresis, Starch Gel; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005838:Genotype; D005959:Glucosidases / Q000096:biosynthesis*; D006358:Hot Temperature; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007527:Isoenzymes / Q000032:analysis; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008297:Male; D010375:Pedigree; D010641:Phenotype; D010920:Placenta / Q000201:enzymology; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011485:Protein Binding; D013997:Time Factors; D014427:Twins
chemical_list: D007527:Isoenzymes; D005959:Glucosidases