title: Characterization of beta-thalassemia mutations by denaturing gradient gel electrophoresis: patterns in the Mediterranean mutations.
abstract: Of the many methods which have been devised to detect point mutations, we use reverse dot blot for beta-thalassemia in our laboratory. In any mutation detection program, rare or new mutations outside of a laboratory's repertoire will be encountered. Denaturing gradient gel electrophoresis (DGGE) is one of the methods used to localize such mutations. We describe the DGGE electrophoresis pattern of eight common Mediterranean beta-thalassemia mutations and the beta S and beta C mutations, and the definition of two rare mutations outside of these ten. We believe that DGGE is a useful adjunct for mutation detection.
authors.affiliation: Howard Hughes Medical Institute, University of California, San Francisco 94143-0724.
authors.forename: A M
authors.initials: AM
authors.lastname: Dozy
authors.forename: Y W
authors.initials: YW
authors.lastname: Kan
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D004586:Electrophoresis / Q000379:methods; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009691:Nucleic Acid Denaturation; D017354:Point Mutation; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins