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Characterization of β‐thalassemia mutations by denaturing gradient gel electrophoresis: patterns in the Mediterranean mutations
Author(s) -
Dozy Andrée M.,
Kan Yuet Wai
Publication year - 1994
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1994.tb04145.x
Subject(s) - temperature gradient gel electrophoresis , mutation , point mutation , thalassemia , biology , genetics , gel electrophoresis , microbiology and biotechnology , gene , 16s ribosomal rna
Of the many methods which have been devised to detect point mutations, we use reverse dot blot for β‐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 β‐thalassemia mutations and the β s and β c mutations, and the definition of two rare mutations outside of these ten. We believe that DGGE is a useful adjunct for mutation detection.