title: Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants.
abstract: 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 fragments. This approach makes it possible to detect any anomaly in the beta-globin gene. We describe the use of the DGGE method for rapid characterization of beta-chain variants and report a new missense mutation in the beta-globin gene third exon, beta 127 CAG-CGG/Gln-Arg, which is responsible for the synthesis of a highly unstable hemoglobin.
authors.affiliation: Laboratoire de Génétique Moléculaire, INSERM U91, CHU Henri Mondor, Créteil, France.
authors.forename: E
authors.initials: E
authors.lastname: Girodon
authors.forename: N
authors.initials: N
authors.lastname: Ghanem
authors.forename: M
authors.initials: M
authors.lastname: Vidaud
authors.forename: J
authors.initials: J
authors.lastname: Riou
authors.forename: J
authors.initials: J
authors.lastname: Martin
authors.forename: F
authors.initials: F
authors.lastname: Galactéros
authors.forename: M
authors.initials: M
authors.lastname: Goossens
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D004586:Electrophoresis / Q000379:methods; D005091:Exons; D005260:Female; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D017086:beta-Thalassemia / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins