Alpha-1 antitrypsin protease inhibitor typing in immobilized pH gradients.

Alpha-1 antitrypsin deficiency is a cause of liver disease in neonates and emphysema in adults. Protein phenotypes are identified by isoelectric focusing using polyacrylamide gels. The Pharmacia Phastsystem was utilized for electrophoresis in miniature gels to identify heterozygotes for the deficiency. Protein phenotypes were identified by isoelectric focusing in a fixed pH gradient from 4.3 to 5 using the Pharmacia Phastsystem for automated electrophoresis and staining of gels. The gradient is formed with Immobilines to create gels of dimensions 50 x 43 x 0.5 mm. The processing time for 16 specimens is one hour and 45 minutes. This method is a rapid, automated method for the analysis of alpha-1 antitrypsin phenotypes and for establishing the diagnosis of a genetic deficiency of this protein.