Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples

Detalhes bibliográficos
Autor(a) principal: Ribeiro, Diogo
Data de Publicação: 2013
Outros Autores: Cardoso, Ana, Duarte, Ana Joana, Vieira, Luís, Amaral, Olga
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/1572
Resumo: DR and AJD were FCT research grantees (PIC/IC/82822/2007)
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spelling Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood SamplesDoenças GenéticasMPS IHurlerGenética HumanadHPLCDBSMutation DetectionIDUA geneDR and AJD were FCT research grantees (PIC/IC/82822/2007)Development of a simple mutation directed method in order to allow lowering the cost of mutation testing using an easily obtainable biological material. Assessment of the feasibility of such method was tested using a GC-rich amplicon. A method of denaturing high-performance liquid chromatography (dHPLC) was improved and implemented as a technique for the detection of variants in exon 9 of the IDUA gene. The optimized method was tested in 500 genomic DNA samples obtained from dried blood spots (DBS). With this dHPLC approach it was possible to detect different variants, including the common p.Trp402Ter mutation in the IDUA gene. The high GC content did not interfere with the resolution and reliability of this technique, and discrimination of G-C transversions was also achieved. This PCR-based dHPLC method proved to be a rapid, a sensitive, and an excellent option for screening numerous samples obtained from DBS. Furthermore, it resulted in the consistent detection of clearly distinguishable profiles of the common p.Trp402Ter IDUA mutation with an advantageous balance of cost and technical requirements.FCT [2009-2013]Hindawi Publishing CorporationRepositório Científico do Instituto Nacional de SaúdeRibeiro, DiogoCardoso, AnaDuarte, Ana JoanaVieira, LuísAmaral, Olga2013-04-26T14:09:53Z2013-04-032013-04-03T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/1572engISRN Molecular Biology. 2013(2013):451298.doi:10.1155/2013/4512982090-7907doi.org/10.1155/2013/451298info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:38:48Zoai:repositorio.insa.pt:10400.18/1572Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:36:39.988589Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples
title Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples
spellingShingle Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples
Ribeiro, Diogo
Doenças Genéticas
MPS I
Hurler
Genética Humana
dHPLC
DBS
Mutation Detection
IDUA gene
title_short Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples
title_full Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples
title_fullStr Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples
title_full_unstemmed Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples
title_sort Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples
author Ribeiro, Diogo
author_facet Ribeiro, Diogo
Cardoso, Ana
Duarte, Ana Joana
Vieira, Luís
Amaral, Olga
author_role author
author2 Cardoso, Ana
Duarte, Ana Joana
Vieira, Luís
Amaral, Olga
author2_role author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Ribeiro, Diogo
Cardoso, Ana
Duarte, Ana Joana
Vieira, Luís
Amaral, Olga
dc.subject.por.fl_str_mv Doenças Genéticas
MPS I
Hurler
Genética Humana
dHPLC
DBS
Mutation Detection
IDUA gene
topic Doenças Genéticas
MPS I
Hurler
Genética Humana
dHPLC
DBS
Mutation Detection
IDUA gene
description DR and AJD were FCT research grantees (PIC/IC/82822/2007)
publishDate 2013
dc.date.none.fl_str_mv 2013-04-26T14:09:53Z
2013-04-03
2013-04-03T00:00:00Z
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://hdl.handle.net/10400.18/1572
url http://hdl.handle.net/10400.18/1572
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv ISRN Molecular Biology. 2013(2013):451298.doi:10.1155/2013/451298
2090-7907
doi.org/10.1155/2013/451298
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Hindawi Publishing Corporation
publisher.none.fl_str_mv Hindawi Publishing Corporation
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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