| Author | Motta, Fabiana Maia Moura Costa | pt_BR |
| Author | Santana, Maria Angélica | pt_BR |
| Author | Lemos, Antônio Carlos Moreira | pt_BR |
| Author | Castro Filho, Bernardo Galvão | pt_BR |
| Author | Acosta, Angelina Xavier | pt_BR |
| Access date | 2014-07-31T17:03:31Z | |
| Available date | 2014-07-31T17:03:31Z | |
| Document date | 2007 | |
| Citation | MOTTA, Fabiana Maia Moura Costa et al. Low frequency of the ΔF508 mutation of the CFTR gene in a highly admixed population in Bahia, Brazil. Human Biology, v. 79, n. 3, p. 293-297, June 2007. | pt_BR |
| ISSN | 0753-3322 | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/8109 | |
| Language | eng | pt_BR |
| Publisher | Wayne State University Press | pt_BR |
| Rights | restricted access | pt_BR |
| Title | Low frequency of the ΔF508 mutation of the CFTR gene in a highly admixed population in Bahia, Brazil | en |
| Type | Article | pt_BR |
| DOI | 10.1353/hub.2007.0040 | pt_BR |
| 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 F508 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 F508 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
F508 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 F508 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. | en |
| Affilliation | Escola Bahiana de Medicina e Saúde Pública. Fundação Bahiana para o Desenvolvimento das Ciências. Salvador, BA, Brasil / Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório Avançado de Saúde Pública. Salvador, BA, Brasil. | pt_BR |
| Affilliation | Centro de Referência de Fibrose Cística da Bahia. Hospital Octávio Mangabeira. Salvador, BA, Brasil. | pt_BR |
| Affilliation | Centro de Referência de Fibrose Cística da Bahia. Hospital Octávio Mangabeira. Salvador, BA, Brasil. | pt_BR |
| Affilliation | Escola Bahiana de Medicina e Saúde Pública. Fundação Bahiana para o Desenvolvimento das Ciências. Salvador, BA, Brasil / Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório Avançado de Saúde Pública. Salvador, BA, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório Avançado de Saúde Pública. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Medicina da Bahia. Departamento de Pediatria. Salvador, BA, Brasil. | pt_BR |
| Subject | Cystic fibrosis | en |
| Subject | F508 mutation | en |
| Subject | CFTR gene | en |
| Subject | Population genetics | en |
| Subject | Brazil | en |
