Low frequency of the ΔF508 mutation of the CFTR gene in a highly admixed population in Bahia, Brazil

Detalhes bibliográficos
Autor(a) principal: Costa, Fabiana Maia Moura
Data de Publicação: 2007
Outros Autores: Santana, Maria Angélica Pinheiro Santos, Lemos, Antônio Carlos Moreira, Acosta, Angelina Xavier
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://repositorio.ufba.br/ri/handle/ri/15961
Resumo: Texto completo: acesso restrito. p. 293-297
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spelling Costa, Fabiana Maia MouraSantana, Maria Angélica Pinheiro SantosLemos, Antônio Carlos MoreiraAcosta, Angelina XavierCosta, Fabiana Maia MouraSantana, Maria Angélica Pinheiro SantosLemos, Antônio Carlos MoreiraAcosta, Angelina Xavier2014-09-09T15:50:56Z20070018-7143http://repositorio.ufba.br/ri/handle/ri/15961v. 79, n. 3Texto completo: acesso restrito. p. 293-297Cystic 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.Submitted by Suelen Reis (suziy.ellen@gmail.com) on 2014-01-24T13:08:04Z No. of bitstreams: 1 10.1353hub.2007.0040.pdf: 174936 bytes, checksum: c94e44222c31a56d2a0cec32e4169190 (MD5)Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2014-09-09T15:50:56Z (GMT) No. of bitstreams: 1 10.1353hub.2007.0040.pdf: 174936 bytes, checksum: c94e44222c31a56d2a0cec32e4169190 (MD5)Made available in DSpace on 2014-09-09T15:50:56Z (GMT). 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dc.title.pt_BR.fl_str_mv Low frequency of the ΔF508 mutation of the CFTR gene in a highly admixed population in Bahia, Brazil
dc.title.alternative.pt_BR.fl_str_mv Human Biology
title Low frequency of the ΔF508 mutation of the CFTR gene in a highly admixed population in Bahia, Brazil
spellingShingle Low frequency of the ΔF508 mutation of the CFTR gene in a highly admixed population in Bahia, Brazil
Costa, Fabiana Maia Moura
Cystic fibrosis
F508 mutation
CFTR gene
Population genetics
Brasil
title_short Low frequency of the ΔF508 mutation of the CFTR gene in a highly admixed population in Bahia, Brazil
title_full Low frequency of the ΔF508 mutation of the CFTR gene in a highly admixed population in Bahia, Brazil
title_fullStr Low frequency of the ΔF508 mutation of the CFTR gene in a highly admixed population in Bahia, Brazil
title_full_unstemmed Low frequency of the ΔF508 mutation of the CFTR gene in a highly admixed population in Bahia, Brazil
title_sort Low frequency of the ΔF508 mutation of the CFTR gene in a highly admixed population in Bahia, Brazil
author Costa, Fabiana Maia Moura
author_facet Costa, Fabiana Maia Moura
Santana, Maria Angélica Pinheiro Santos
Lemos, Antônio Carlos Moreira
Acosta, Angelina Xavier
author_role author
author2 Santana, Maria Angélica Pinheiro Santos
Lemos, Antônio Carlos Moreira
Acosta, Angelina Xavier
author2_role author
author
author
dc.contributor.author.fl_str_mv Costa, Fabiana Maia Moura
Santana, Maria Angélica Pinheiro Santos
Lemos, Antônio Carlos Moreira
Acosta, Angelina Xavier
Costa, Fabiana Maia Moura
Santana, Maria Angélica Pinheiro Santos
Lemos, Antônio Carlos Moreira
Acosta, Angelina Xavier
dc.subject.por.fl_str_mv Cystic fibrosis
F508 mutation
CFTR gene
Population genetics
Brasil
topic Cystic fibrosis
F508 mutation
CFTR gene
Population genetics
Brasil
description Texto completo: acesso restrito. p. 293-297
publishDate 2007
dc.date.issued.fl_str_mv 2007
dc.date.accessioned.fl_str_mv 2014-09-09T15:50:56Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://repositorio.ufba.br/ri/handle/ri/15961
dc.identifier.issn.none.fl_str_mv 0018-7143
dc.identifier.number.pt_BR.fl_str_mv v. 79, n. 3
identifier_str_mv 0018-7143
v. 79, n. 3
url http://repositorio.ufba.br/ri/handle/ri/15961
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.source.pt_BR.fl_str_mv http://dx.doi.org/10.1353/hub.2007.0040
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