title: CFTR mutations in Chilean cystic fibrosis patients.
abstract: An analysis of five of the most common cystic fibrosis (CF) mutations worldwide (delta F-508, R-553X, G-551D, N-1303K and G-542X) was performed in 36 Chilean patients. Polymerase chain reaction (PCR) amplification of the DNA followed by allele specific restriction enzyme analysis was used for detection. The overall frequencies of the mutations in the chromosomes analyzed were 29.2% for delta F-508 and 4.2% for R-553X (n = 72). The G-542X, G-551D and N-1303 K mutations were absent in the Chilean sample. Our data suggest however that delta F-508 is not the most common CF mutation in Chilean patients. delta F-508 and R-553X account for only 33.4% of the alleles; 66.6% of them do not respond to the probes used and still remain uncharacterized.
authors.affiliation: Departamento de Bioquimica, Facultad de Medicina, Universidad de Chile, Santiago.
authors.forename: J
authors.initials: J
authors.lastname: Rios
authors.forename: O
authors.initials: O
authors.lastname: Orellana
authors.forename: M
authors.initials: M
authors.lastname: Aspillaga
authors.forename: I
authors.initials: I
authors.lastname: Avendano
authors.forename: I
authors.initials: I
authors.lastname: Largo
authors.forename: N
authors.initials: N
authors.lastname: Riveros
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002677:Chile; D018118:Chloride Channels / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D017931:DNA Primers; D015342:DNA Probes; D004591:Electrophoresis, Polyacrylamide Gel; D005787:Gene Frequency; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: C505032:CFTR protein, human; D018118:Chloride Channels; D017931:DNA Primers; D015342:DNA Probes; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator