Title: Mutation detection in the alpha-1 antitrypsin gene (PI) using denaturing gradient gel electrophoresis
Authors: Lodewyckx, L
Vandevyver, C
Vandervorst, C
Van Steenbergen, Werner
Raus, J
Michiels, L #
Issue Date: Sep-2001
Series Title: Human Mutation vol:18 issue:3 pages:243-50
Abstract: A method for mutation detection in the alpha-1 antitrypsin gene (protease inhibitor 1; PI) has been developed using denaturing gradient gel electrophoresis of PCR amplified gene fragments. Using this experimental approach, all common phenotypes and mutations could be detected. Denaturing gradient gel electrophoresis (DGGE) was compared with standard isoelectric focusing (IEF) in 20 potential alpha1-antitrypsin deficient patients and their relatives. The genotype determined by DGGE was found to be more reliable in some cases than IEF, which is essential for a proper diagnosis of alpha-1 antitrypsin malfunctioning.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Hepatology
# (joint) last author

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