Detection of the common alpha-1-antitrypsin variants by denaturing gradient gel electrophoresis
- 1 July 1991
- journal article
- Published by Wiley in Annals of Human Genetics
- Vol. 55 (3) , 183-198
- https://doi.org/10.1111/j.1469-1809.1991.tb00413.x
Abstract
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.Keywords
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