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Extension of human acid α‐glucosidase polymorphism by isoelectric focusing in polyacrylamide gel
Author(s) -
NICKEL B. E.,
McALPINE P. J.
Publication year - 1982
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1982.tb00700.x
Subject(s) - isoelectric focusing , isozyme , polyacrylamide gel electrophoresis , biology , polymorphism (computer science) , phenotype , allele , microbiology and biotechnology , gel electrophoresis , isoelectric point , chromatography , biochemistry , genetics , chemistry , enzyme , gene
SUMMARY 1. A method to analyse acid α‐glucosidase (GAA) activity in human tissues by flatbed polyacrylamide gel isoelectric focusing has been devised. 2. With this method the GAA polymorphism has been extended from three to six commonly occurring phenotypes. 3. After isoelectric focusing the GAA2 isozyme migrated cathodally with respect to the GAA1 isozyme, whereas with the previous starch‐gel electrophoresis method their relative positions were reversed. 4. The six common phenotypes are generated by three alleles, GAA*1, GAA*2 and GAA*4 with frequencies of 0.91, 0.03 and 0.06, respectively.