title: Cystic fibrosis: low frequency of DF508 mutation in 2 population samples from Rio de Janeiro, Brazil.
abstract: Blood samples from 44 unrelated cystic fibrosis (CF) patients from Rio de Janeiro, Brazil, were analyzed for the 8 European CF mutations. Six homozygous and 15 heterozygous carriers of the DF508 mutation were found, corresponding to 47.7% of CF patients (allele frequency 0.3068). The G542X and G551D mutations were also observed with allele frequencies of 0.0227 and 0.0114, respectively. An analysis of the DF508 mutation in 291 randomly chosen, healthy individuals was performed, and only 3 heterozygous carriers were identified. These results show that the frequency of the DF508 allele in Rio de Janeiro is much lower than the world average; this may be due to the extremely heterogeneous ethnic admixture of the study population. By combining the results of these 2 different samples (CF patients and random population) and admixture data from Rio de Janeiro, we can estimate the CF incidence in this population to be 1:3542 individuals. However, taking into account the Rio de Janeiro ethnic admixture, we can find an estimate of 1:6902 individuals.
authors.affiliation: Departamento de Genética, Instituto Oswaldo Cruz, Rio de Janeiro, Brazil.
authors.forename: G M
authors.initials: GM
authors.lastname: Cabello
authors.forename: A F
authors.initials: AF
authors.lastname: Moreira
authors.forename: D
authors.initials: D
authors.lastname: Horovitz
authors.forename: P
authors.initials: P
authors.lastname: Correia
authors.forename: A
authors.initials: A
authors.lastname: Santa Rosa
authors.forename: J
authors.initials: J
authors.lastname: Llerena
authors.forename: J
authors.initials: J
authors.lastname: Greg
authors.forename: W W
authors.initials: WW
authors.lastname: Grody
authors.forename: W M
authors.initials: WM
authors.lastname: Degrave
authors.forename: O
authors.initials: O
authors.lastname: Fernandes
authors.forename: P H
authors.initials: PH
authors.lastname: Cabello
mesh_terms: D001938:Brazil / Q000453:epidemiology; D003550:Cystic Fibrosis / Q000097:blood / Q000453:epidemiology* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D015994:Incidence; D009154:Mutation / Q000235:genetics*; D011159:Population Surveillance; D014504:Urban Health