title: Low frequency of the deltaAF508 mutation of the CFTR gene in a highly admixed population in Bahia, Brazil.
abstract: Cystic fibrosis (CF) is the most common autosomal recessive disease in the European (Caucasian) population, with an incidence of 1:2000 to 1:8000. The deltaF508 mutation (66%) is predominant among more than 1300 different mutations of the CFTR gene. The population of the state of Bahia, in northeastern Brazil, is highly admixed (mainly African and Portuguese descendants), and so far, no study has been carried out to assess the molecular basis of CF in this population. We determined the deltaF508 mutation frequency in 503 individuals from the general population of Salvador, the capital of the state of Bahia, and in 144 CF patients from several cities in Bahia. In the general population samples we found 4 individuals heterozygous for the deltaF508 mutation (allele frequency of 0.4%). This frequency was lower than that found in the state of Rio de Janeiro, in southeastern Brazil, and similar to that reported for the state of Paraná, in the far south. In the CF patients we found 9 heterozygous individuals and 8 homozygous individuals (allele frequency of 8.68%) for the deltaF508 mutation. This frequency is considerably lower than the average frequency of CF in the world population and in the Brazilian CF population of European ancestry (47%). These data could be explained by the intense admixture among the population in Bahia, and they suggest a heterogeneous molecular basis for CF in this area of Brazil.
authors: Escola Bahiana de Medicina e Saúde Piblica (Curso de Pós-Graduação em Medicina e Saúde Humana), Fundação Bahiana para o Desenvolvimento das Ciências, Salvador, Bahia, Brazil.
authors: Fabiana Maia
authors: FM
authors: Moura Costa
authors: Maria Angélica
authors: MA
authors: Santana
authors: Antônio Carlos Moreira
authors: AC
authors: Lemos
authors: Bernardo
authors: B
authors: Galvão-Castro
authors: Angelina Xavier
authors: AX
authors: Acosta
mesh_terms: D000483:Alleles; D001938:Brazil / Q000453:epidemiology; D003430:Cross-Sectional Studies; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D015994:Incidence; D009154:Mutation; D011110:Polymorphism, Genetic
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator