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Mutation detection in the alpha‐1 antitrypsin gene ( PI ) using denaturing gradient gel electrophoresis
Author(s) -
Lodewyckx L.,
Vandevyver C.,
Vandervorst C.,
Van Steenbergen W.,
Raus J.,
Michiels L.
Publication year - 2001
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1180
Subject(s) - temperature gradient gel electrophoresis , isoelectric focusing , biology , microbiology and biotechnology , gel electrophoresis , gene , pi , phenotype , electrophoresis , genetics , biochemistry , enzyme , 16s ribosomal rna
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 α1‐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. Hum Mutat 18:243–250, 2001. © 2001 Wiley‐Liss, Inc.