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
id UFBA-2_cdd5dd46a6eb037b4e5e11552ca9934b
oai_identifier_str oai:repositorio.ufba.br:ri/15961
network_acronym_str UFBA-2
network_name_str Repositório Institucional da UFBA
repository_id_str 1932
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). No. of bitstreams: 1 10.1353hub.2007.0040.pdf: 174936 bytes, checksum: c94e44222c31a56d2a0cec32e4169190 (MD5) Previous issue date: 2007http://dx.doi.org/10.1353/hub.2007.0040reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBACystic fibrosisF508 mutationCFTR genePopulation geneticsBrasilLow frequency of the ΔF508 mutation of the CFTR gene in a highly admixed population in Bahia, BrazilHuman Biologyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01info:eu-repo/semantics/openAccessengORIGINAL10.1353hub.2007.0040.pdf10.1353hub.2007.0040.pdfapplication/pdf174936https://repositorio.ufba.br/bitstream/ri/15961/1/10.1353hub.2007.0040.pdfc94e44222c31a56d2a0cec32e4169190MD51LICENSElicense.txtlicense.txttext/plain1345https://repositorio.ufba.br/bitstream/ri/15961/2/license.txtff6eaa8b858ea317fded99f125f5fcd0MD52TEXT10.1353hub.2007.0040.pdf.txt10.1353hub.2007.0040.pdf.txtExtracted texttext/plain18230https://repositorio.ufba.br/bitstream/ri/15961/3/10.1353hub.2007.0040.pdf.txtd4b1dbf35976a0a335f7358c7572cabbMD53ri/159612022-07-05 14:03:32.956oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:03:32Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
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
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFBA
instname:Universidade Federal da Bahia (UFBA)
instacron:UFBA
instname_str Universidade Federal da Bahia (UFBA)
instacron_str UFBA
institution UFBA
reponame_str Repositório Institucional da UFBA
collection Repositório Institucional da UFBA
bitstream.url.fl_str_mv https://repositorio.ufba.br/bitstream/ri/15961/1/10.1353hub.2007.0040.pdf
https://repositorio.ufba.br/bitstream/ri/15961/2/license.txt
https://repositorio.ufba.br/bitstream/ri/15961/3/10.1353hub.2007.0040.pdf.txt
bitstream.checksum.fl_str_mv c94e44222c31a56d2a0cec32e4169190
ff6eaa8b858ea317fded99f125f5fcd0
d4b1dbf35976a0a335f7358c7572cabb
bitstream.checksumAlgorithm.fl_str_mv MD5
MD5
MD5
repository.name.fl_str_mv Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)
repository.mail.fl_str_mv
_version_ 1808459470399864832