Characterization of beta-thalassemia mutations by denaturing gradient gel electrophoresis: patterns in the Mediterranean mutations.

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.