title: Use of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patients.
abstract: The delta F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilian CF patients and their 17 families by use of PCR and differential hybridization with oligonucleotides. In a total of 34 chromosomes considered, 12 (35%) carried the F508 deletion, a frequency much lower than that reported in most other populations. As a consequence, CF in Brazil would be predominantly caused by mutations different from the F508 deletion.
authors.affiliation: Instituto Oswaldo Cruz, Departamento de Bioquímica e Biologia Molecular, Rio de Janeiro, Brasil.
authors.forename: A B
authors.initials: AB
authors.lastname: de Miranda
authors.forename: J
authors.initials: J
authors.lastname: Llerena Júnior
authors.forename: L T
authors.initials: LT
authors.lastname: Dallalana
authors.forename: R S
authors.initials: RS
authors.lastname: Moura-Neto
authors.forename: P N
authors.initials: PN
authors.lastname: Suffys
authors.forename: W M
authors.initials: WM
authors.lastname: Degrave
mesh_terms: D001483:Base Sequence; D001938:Brazil; D002897:Chromosomes, Human, Pair 7; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction