Detection of the common alpha-1-antitrypsin variants by denaturing gradient gel electrophoresis.
The well-characterized and highly polymorphic human alpha-1-antitrypsin (AAT) gene was used as a test locus to evaluate the general applicability of denaturing gradient gel electrophoresis (DGGE) for the detection of single base change polymorphisms. We report the resolution of all the major alleles, M1Ala, M1Val, M2, M3, S and Z and the identification of substantial genetic polymorphism in intron 3-4 by this technique. DGGE was found to be a quick and efficient method for the screening of multiple samples for the presence of genetic variation.
Johnson
P H
PH
MRC Human Biochemical Genetics Unit, Galton Laboratory, University College London.
Cadiou
H
H
Hopkinson
D A
DA
D000483:Alleles; D001483:Base Sequence; D004247:DNA; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods*; D005091:Exons; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009691:Nucleic Acid Denaturation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D000515:alpha 1-Antitrypsin / Q000235:genetics*
D000515:alpha 1-Antitrypsin; D004247:DNA