title: A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms.
abstract: We describe a scanning procedure for the detection of beta-globin gene mutations and the prenatal diagnosis of beta-thalassemias. The method is based on the combined use of PCR and denaturing gradient gel electrophoresis (DGGE) of six amplified fragments encompassing the whole beta-globin coding region and splice junctions, as well as the promoter and 3' untranslated regions. The whole beta-globin gene can be rapidly scanned for the presence of deleterious mutations. The proposed diagnostic strategy provides a major improvement over current approaches to beta-globin gene analysis in both research and clinical laboratories, especially those which analyse DNA samples from individuals belonging to various ethnic or population groups. The use of this procedure has enabled us to detect six novel sequence changes in the beta-globin gene, including two deleterious mutations and four polymorphisms.
authors.affiliation: Laboratoire de Génétique Moléculaire, INSERM U91, CHU Henri Mondor, Créteil, France.
authors.forename: N
authors.initials: N
authors.lastname: Ghanem
authors.forename: E
authors.initials: E
authors.lastname: Girodon
authors.forename: M
authors.initials: M
authors.lastname: Vidaud
authors.forename: J
authors.initials: J
authors.lastname: Martin
authors.forename: P
authors.initials: P
authors.lastname: Fanen
authors.forename: F
authors.initials: F
authors.lastname: Plassa
authors.forename: M
authors.initials: M
authors.lastname: Goossens
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D015342:DNA Probes; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005821:Genetic Techniques; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics
chemical_list: D015342:DNA Probes; D005914:Globins; D004247:DNA