title: Cystic fibrosis: frequency of delta f508 and g542x mutations in Cordoba, Argentina.
abstract: Using Polymerase Chain Reaction (PCR) based techniques we analyzed the frequency and genotypic distribution of two mutations (delta F508 and G542X) that produce Cystic Fibrosis. The study was carried out in 19 non-related patients (38 chromosomes) born in the Province of Córdoba. The distribution of genotypes showed the presence of 8 homozygote patients delta F508/delta F508, 2 individuals with non-determined mutations (X/X) and 9 compound heterozygotes (delta F508/X). The mutation G542X was not found. The mutation delta F508 was detected in 25 chromosomes resulting in an incidence of 66%.
authors: Facultad de Ciencias Quimicas, Universidad Nacional de Córdoba.
authors: M C
authors: MC
authors: Saleh
authors: A
authors: A
authors: Botelli
authors: M
authors: M
authors: Melano de Botelli
authors: C A
authors: CA
authors: Rezzonico
authors: C E
authors: CE
authors: Argaraña
mesh_terms: D001118:Argentina; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator