title: CFTR molecular analysis reveals infrequent allele frequencies in nine cystic fibrosis patients from São Paulo State, Brazil.
abstract: Although cystic fibrosis (CF) is the most common autosomal recessive disorder in whites, it is thought to be relatively rare or, alternatively, underdiagnosed in Latin America. In Brazil, different groups have shown a DF508 mutation frequency ranging from 30.7% to 50.8%. Such variation may be explained by the ethnic differences observed in this country, which is genetically very heterogeneous. We describe the molecular analysis for 32 mutations of the CFTR gene in nine unrelated patients with cystic fibrosis from São Paulo State, Brazil. The main observation of this study was the absence of 30 out of the 32 mutations in 12 alleles among these patients. Except for mutations DF508 and N1303K, no other mutation could be detected in any of the studied patients. In one of two alleles, a DF508 mutation was detected in four patients (22% of the total sample) and an N1303K mutation was detected in two patients (11% of the total sample). One patient was a compound heterozygote for DF508/N1303K. Although the sample studied here was small, it may be possible that our patients have infrequent alleles once these can occur at higher frequencies in selected populations and also show relevant regional differences. Additional investigations in a larger sample are currently in progress in our laboratory to confirm our results, and further studies are still needed to determine the frequencies of CF gene mutations in different regions and ethnic groups in the Brazilian population.
authors.affiliation: Genetics Service, Molecular Biology Department, Faculty of Medicine (FAMERP), São José do Rio Preto, SP, Brazil.
authors.forename: Eny Maria
authors.initials: EM
authors.lastname: Goloni-Bertollo
authors.forename: Andréa Regina B
authors.initials: AR
authors.lastname: Rossit
authors.forename: João Batista Salomão
authors.initials: JB
authors.lastname: Junior
authors.forename: Agnes Cristina
authors.initials: AC
authors.lastname: Fett-Conte
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
mesh_terms: D000483:Alleles; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator