title: [Molecular genetic study of cystic fibrosis in the Chilean population. Relationship to its clinical expression].
abstract: Aiming to establish a genotype-phenotype relationship and to search a clinical expression in heterozygotes, 25 Chilean subjects with Cystic Fibrosis and 165 relatives were subjected to a clinical-molecular study. The most common mutations found worldwide were studied: delta F-508, G-542X, N-1303K, R-553X and G551D. Clinical and laboratory assessment comprised chest X-rays, spirometry, clinical evaluation, nutritional assessment, sweat test and carotenemia. Age at diagnosis was lower among homozygotes for the mutation delta F-508. In this group, Brasfield and Schawchman scores were better, probably due to an earlier initiation of treatment. No other differences were found among genotypic groups or relatives. Genetic markers indicated a higher european component of the sample, compared to the general Chilean population.
authors.affiliation: Unidad de Genética, Hospital Luis Calvo Mackenna, Santiago de Chile.
authors.forename: M
authors.initials: M
authors.lastname: Aspillaga
authors.forename: I
authors.initials: I
authors.lastname: Avendaño
authors.forename: I
authors.initials: I
authors.lastname: Largo
authors.forename: C
authors.initials: C
authors.lastname: Valenzuela
authors.forename: N
authors.initials: N
authors.lastname: Riveros
authors.forename: O
authors.initials: O
authors.lastname: Orellana
authors.forename: M A
authors.initials: MA
authors.lastname: Moreno
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002677:Chile; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008967:Molecular Biology; D010641:Phenotype; D044465:White People
vernacular_title: Estudio genético molecular de la fibrosis quística en la población Chilena. Relación con su expresión clínica.