How to translate text using browser tools
1 June 2007 Low Frequency of the ΔF508 Mutation of the CFTR Gene in a Highly Admixed Population in Bahia, Brazil
Fabiana Maia Moura Costa, Maria Angélica Santana, Antônio Carlos Moreira Lemos, Bernardo Galvão-Castro, Angelina Xavier Acosta
Author Affiliations +
Abstract

Cystic fibrosis (CF) is the most common autosomal recessive disease in the European (Caucasian) population, with an incidence of 1:2,000 to 1:8,000. The ΔF508 mutation (66%) is predominant among more than 1,300 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 ΔF508 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 ΔF508 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 ΔF508 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.

Fabiana Maia Moura Costa, Maria Angélica Santana, Antônio Carlos Moreira Lemos, Bernardo Galvão-Castro, and Angelina Xavier Acosta "Low Frequency of the ΔF508 Mutation of the CFTR Gene in a Highly Admixed Population in Bahia, Brazil," Human Biology 79(3), 293-297, (1 June 2007). https://doi.org/10.1353/hub.2007.0040
Received: 6 June 2006; Published: 1 June 2007
KEYWORDS
Brazil
CFTR GENE
CYSTIC FIBROSIS
population genetics
Δ F508 MUTATION
RIGHTS & PERMISSIONS
Get copyright permission
Back to Top