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

✍ Scribed by L. Lodewyckx; C. Vandevyver; C. Vandervorst; W. Van Steenbergen; J. Raus; L. Michiels

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 380 KB
Volume: 18
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1180

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by Johannes Zschocke

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 a1-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 18:243250, 2001.

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