Mutation detection in the alpha-1 antitrypsin gene (PI) using denaturing gradient gel electrophoresis

A method for mutation detection in the alpha-1 antitrypsin gene (protease i nhibitor 1; PI) has been developed using denaturing gradient gel electropho resis of PCR amplified gene fragments. Using this experimental approach, al l common phenotypes and mutations could be detected. Denaturing gradient ge l electrophoresis (DGGE) was compared with standard isoelectric focusing (I EF) in 20 potential alpha1-antitrypsin deficient patients and their relativ es. The genotype determined by DGGE was found to be more reliable in some c ases than IEF, which is essential for a proper diagnosis of alpha-1 antitry psin malfunctioning. Hum Mutat 18:243-250, 2001. (C) 2001 Wiley,Liss, Inc.