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Detection of the common alpha‐1‐antitrypsin variants by denaturing gradient gel electrophoresis
Author(s) -
JOHNSON P. H.,
CADIOU H.,
HOPKINSON D. A.
Publication year - 1991
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1991.tb00413.x
Subject(s) - temperature gradient gel electrophoresis , alpha (finance) , gel electrophoresis , genetics , electrophoresis , biology , microbiology and biotechnology , gene , medicine , 16s ribosomal rna , construct validity , nursing , patient satisfaction
SUMMARY 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, M1 Ala, 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.