title: Frequency of the cystic fibrosis delta F 508 mutation in a population from São Paulo State, Brazil.
abstract: Cystic fibrosis (CF) nonrelated patients (N = 24) from São Paulo State, Brazil, were screened for the presence of the delta F 508 mutation by PCR amplification of the deletion region with the primers C16B (5'GTTTTCCTGGATTATGCCTGGGCAC3') and C16D (5'GTTGGCATGCTTTGATGACGCTTC 3'), and by acrylamide gel electrophoresis. The allelic frequency of the delta F 508 mutation was 33% (15/48 chromosomes). The genotype distribution among the patients showed 12.5% (N = 3) of delta F 508 homozygotes, 37.5% (N = 9) of delta F heterozygotes and 50% (N = 12) of non-carriers of the mutation. The frequency observed in this study is lower than that estimated for the North American and North European population (75% to 80%) and is similar to that described in Southern Europe (25% to 50%) which is consistent with the origins of this population.
authors.affiliation: Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, SP, Brasil.
authors.forename: C S
authors.initials: CS
authors.lastname: Martins
authors.forename: F
authors.initials: F
authors.lastname: Ribeiro
authors.forename: F F
authors.initials: FF
authors.lastname: Costa
mesh_terms: D001483:Base Sequence; D001938:Brazil / Q000208:ethnology; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics*; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction