Use of PCR for the determination of the frequency of the deltaF508 mutation in Brasilian cistic fibrosis patients

Detalhes bibliográficos
Autor(a) principal: Miranda,Antonio B. de
Data de Publicação: 1993
Outros Autores: LLerena Junior,Juan, Dallalana,Ludma T., Moura-Neto,Rodrigo S., Suffys,Philip N., Degrave,Wim M.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Memórias do Instituto Oswaldo Cruz
Texto Completo: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0074-02761993000200022
Resumo: The [Delta]F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilian CF patients and their 17 families by use of PCR and differential hybridization with oligonucleotides. In a total of 34 chromosomes considered, 12 (35%) carried the F508 deletion, a frequency much lower than that reported in most other populations. As a consequence, CF in Brazil would be predominantly caused by mutations different from the F508 deletion
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spelling Use of PCR for the determination of the frequency of the deltaF508 mutation in Brasilian cistic fibrosis patientscystic fibrosisPCR[Delta]F508diagnosisThe [Delta]F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilian CF patients and their 17 families by use of PCR and differential hybridization with oligonucleotides. In a total of 34 chromosomes considered, 12 (35%) carried the F508 deletion, a frequency much lower than that reported in most other populations. As a consequence, CF in Brazil would be predominantly caused by mutations different from the F508 deletionInstituto Oswaldo Cruz, Ministério da Saúde1993-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S0074-02761993000200022Memórias do Instituto Oswaldo Cruz v.88 n.2 1993reponame:Memórias do Instituto Oswaldo Cruzinstname:Fundação Oswaldo Cruzinstacron:FIOCRUZ10.1590/S0074-02761993000200022info:eu-repo/semantics/openAccessMiranda,Antonio B. deLLerena Junior,JuanDallalana,Ludma T.Moura-Neto,Rodrigo S.Suffys,Philip N.Degrave,Wim M.eng2020-04-25T17:47:09Zhttp://www.scielo.br/oai/scielo-oai.php0074-02761678-8060opendoar:null2020-04-26 02:05:39.907Memórias do Instituto Oswaldo Cruz - Fundação Oswaldo Cruztrue
dc.title.none.fl_str_mv Use of PCR for the determination of the frequency of the deltaF508 mutation in Brasilian cistic fibrosis patients
title Use of PCR for the determination of the frequency of the deltaF508 mutation in Brasilian cistic fibrosis patients
spellingShingle Use of PCR for the determination of the frequency of the deltaF508 mutation in Brasilian cistic fibrosis patients
Miranda,Antonio B. de
cystic fibrosis
PCR
[Delta]F508
diagnosis
title_short Use of PCR for the determination of the frequency of the deltaF508 mutation in Brasilian cistic fibrosis patients
title_full Use of PCR for the determination of the frequency of the deltaF508 mutation in Brasilian cistic fibrosis patients
title_fullStr Use of PCR for the determination of the frequency of the deltaF508 mutation in Brasilian cistic fibrosis patients
title_full_unstemmed Use of PCR for the determination of the frequency of the deltaF508 mutation in Brasilian cistic fibrosis patients
title_sort Use of PCR for the determination of the frequency of the deltaF508 mutation in Brasilian cistic fibrosis patients
author Miranda,Antonio B. de
author_facet Miranda,Antonio B. de
LLerena Junior,Juan
Dallalana,Ludma T.
Moura-Neto,Rodrigo S.
Suffys,Philip N.
Degrave,Wim M.
author_role author
author2 LLerena Junior,Juan
Dallalana,Ludma T.
Moura-Neto,Rodrigo S.
Suffys,Philip N.
Degrave,Wim M.
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Miranda,Antonio B. de
LLerena Junior,Juan
Dallalana,Ludma T.
Moura-Neto,Rodrigo S.
Suffys,Philip N.
Degrave,Wim M.
dc.subject.por.fl_str_mv cystic fibrosis
PCR
[Delta]F508
diagnosis
topic cystic fibrosis
PCR
[Delta]F508
diagnosis
dc.description.none.fl_txt_mv The [Delta]F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilian CF patients and their 17 families by use of PCR and differential hybridization with oligonucleotides. In a total of 34 chromosomes considered, 12 (35%) carried the F508 deletion, a frequency much lower than that reported in most other populations. As a consequence, CF in Brazil would be predominantly caused by mutations different from the F508 deletion
description The [Delta]F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilian CF patients and their 17 families by use of PCR and differential hybridization with oligonucleotides. In a total of 34 chromosomes considered, 12 (35%) carried the F508 deletion, a frequency much lower than that reported in most other populations. As a consequence, CF in Brazil would be predominantly caused by mutations different from the F508 deletion
publishDate 1993
dc.date.none.fl_str_mv 1993-06-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0074-02761993000200022
url http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0074-02761993000200022
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0074-02761993000200022
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Instituto Oswaldo Cruz, Ministério da Saúde
publisher.none.fl_str_mv Instituto Oswaldo Cruz, Ministério da Saúde
dc.source.none.fl_str_mv Memórias do Instituto Oswaldo Cruz v.88 n.2 1993
reponame:Memórias do Instituto Oswaldo Cruz
instname:Fundação Oswaldo Cruz
instacron:FIOCRUZ
reponame_str Memórias do Instituto Oswaldo Cruz
collection Memórias do Instituto Oswaldo Cruz
instname_str Fundação Oswaldo Cruz
instacron_str FIOCRUZ
institution FIOCRUZ
repository.name.fl_str_mv Memórias do Instituto Oswaldo Cruz - Fundação Oswaldo Cruz
repository.mail.fl_str_mv
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