Article
Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants.
Annals of hematology - 1 Oct 1992
Girodon E, Ghanem N, Vidaud M, Riou J, Martin J, Galactéros F, Goossens M
Abstract excerpt
Characterization of unstable hemoglobins by protein analysis is often difficult. However, it is facilitated by DNA analysis, especially in the case of hyperunstable beta-chain variants, which produce a beta-thalassemia phenotype. We have applied an efficient strategy to the detection of such variants at the DNA level, based on computer-designed denaturing gradient gel electrophoresis (DGGE) of amplified DNA...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- Electrophoresis
- Exons
- Female
- Globins
- Hemoglobins, Abnormal
- Humans
- Molecular Sequence Data