title: Spectrum of CFTR mutations in Argentine cystic fibrosis patients.
abstract: The identification of different mutations which cause cystic fibrosis (CF) in Argentine patients has been performed. Initially, 10 of the most commonly mutated loci in 228 independent chromosomes were analyzed. Each allele was detected by PCR amplification of DNA samples either directly on polyacrylamide gels, by restriction enzyme digestion and agarose gels electrophoresis, or by hybridization with allele specific oligonucleotides. The delta F508 mutation was found in 57% of the alleles. The frequencies of the other CF mutations were as follows: G542X 3.9%, W1282X 3.1%, N1303K 1.7%, 1717 1-G-->A 0.9%, R553X 0.4%, R1162X 0.4%, whereas G551D, delta I507 and S549N were not found. This direct mutation analysis enabled the detection of 155/228 CF alleles (67%). Of the remaining 73 unidentified CF alleles, 22 were investigated for the 27 exons by DGGE and 9 rare mutations were identified. The incidence of the main CF mutations analyzed was similar to that of the South European population and markedly different from other Latin American countries. The mutation data presented here may be useful for designing DNA testing strategies for CF in Argentina.
authors.affiliation: Laboratorio de Biología Molecular, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina.
authors.forename: L
authors.initials: L
authors.lastname: Chertkoff
authors.forename: A
authors.initials: A
authors.lastname: Visich
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
authors.forename: M
authors.initials: M
authors.lastname: Grenoville
authors.forename: E
authors.initials: E
authors.lastname: Segal
authors.forename: L
authors.initials: L
authors.lastname: Carniglia
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
authors.forename: C
authors.initials: C
authors.lastname: Barreiro
mesh_terms: D001118:Argentina; D002648:Child; D002877:Chromosomes, Human; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004586:Electrophoresis; D005787:Gene Frequency; D005828:Genetics, Population; D006720:Homozygote; D006801:Humans; D008171:Lung Diseases / Q000150:complications / Q000235:genetics; D009154:Mutation; D010179:Pancreas / Q000503:physiopathology; D016133:Polymerase Chain Reaction
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator