Application of isoelectric focusing in alpha1-antitrypsin phenotyping.
alpha1-Antitrypsin, the major protease inhibitor in human serum, occurs in a considerable number of variant forms, some of which are associated with lung and liver diseases. The identification of these genetic variants, generally called Pi-types, by means of isoelectric focusing is described, as well as investigations concerning the practical application of isoelectric focusing as a routine procedure for typing the variants of alpha1-antitrypsin. Finally, isoelectric focusing is compared with the most widely used Pi-phenotyping technique, namely acid starch-gel electrophoresis followed by immunoelectrophoresis in antibody-containing agarose gel.
D014644:Genetic Variation; D005921:Glomerulonephritis / Q000201:enzymology; D006801:Humans; D007525:Isoelectric Focusing / Q000379:methods; D007527:Isoenzymes / Q000032:analysis*; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000032:analysis*
D007527:Isoenzymes; D000515:alpha 1-Antitrypsin