title: beta-Thalassemia and hemoglobin types in Argentina: determination of most frequent mutations.
abstract: In order to know the spectrum of beta-thalassemia alleles and other mutations affecting the beta-globin gene, we analyzed the hemoglobin abnormalities in 24 patients from the Province of Cordoba in Argentina. Molecular screening of samples was performed by the polymerase chain reaction (PCR), using six sets of oligonucleotides to amplify fragments encompassing the whole beta-globin coding region and splice junctions, as well as the promoter and 3' untranslated regions. The altered fragments were determined by denaturing gradient gel electrophoresis (DGGE), and the corresponding mutations were identified by restriction enzyme analysis or by direct sequencing of PCR products. Using this approach, three different beta-thalassemia mutations were detected, codon 39 (C-->T), IVS-1-110 (G-->A), and IVS-1-1 (G-->A), and also the hemoglobin S trait. This is the first report of beta-thalassemia mutations described in Argentina. Our results show that these mutations are similar to those found in Spain and Italy, possibly due to the important Mediterranean migratory stream received in our country, and could be important for prenatal diagnosis of these diseases in Cordoba, Argentina.
authors.affiliation: Departamento de Quimica Biologica-Centro de Investigaciones en Quimica Biologica de Cordoba, Universidad Nacional de Cordoba, Argentina.
authors.forename: N W
authors.initials: NW
authors.lastname: Soria
authors.forename: C L
authors.initials: CL
authors.lastname: Tulián
authors.forename: F
authors.initials: F
authors.lastname: Plassa
authors.forename: G A
authors.initials: GA
authors.lastname: Roth
mesh_terms: D000483:Alleles; D001118:Argentina; D005787:Gene Frequency; D005914:Globins / Q000235:genetics; D006454:Hemoglobins / Q000145:classification* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D017086:beta-Thalassemia / Q000097:blood* / Q000235:genetics*
chemical_list: D006454:Hemoglobins; D005914:Globins