Allele-specific ligation and recombinase polymerase amplification for the detection of single nucleotide polymorphisms

[EN] A novel multiplex detection of single nucleotide polymorphisms (SNPs), with point-of-care testing as its aim, is reported for supporting pharmacogenetic-based decisions. The strategy relies on allele-specific ligation to discriminate base sequence variations at the SNP site and the extension of...

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Autores: Lázaro-Zaragozá, Ana, Yamanaka, Eric-Seiti, Maquieira, Angel|||0000-0003-4641-4957, Tortajada-Genaro, Luis Antonio|||0000-0003-4021-5607
Formato: artículo
Fecha de publicación:2019
País:España
Recursos:Universitat Politècnica de València (UPV)
Repositorio:RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
Idioma:inglés
OAI Identifier:oai:riunet.upv.es:10251/141435
Acesso em linha:https://riunet.upv.es/handle/10251/141435
Access Level:acceso abierto
Palavra-chave:Universal RPA
Ligation
SNP
Optical sensor
Hybridization chip
Personalised healthcare
QUIMICA ANALITICA
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spelling Allele-specific ligation and recombinase polymerase amplification for the detection of single nucleotide polymorphismsLázaro-Zaragozá, AnaYamanaka, Eric-SeitiMaquieira, Angel|||0000-0003-4641-4957Tortajada-Genaro, Luis Antonio|||0000-0003-4021-5607Universal RPALigationSNPOptical sensorHybridization chipPersonalised healthcareQUIMICA ANALITICA[EN] A novel multiplex detection of single nucleotide polymorphisms (SNPs), with point-of-care testing as its aim, is reported for supporting pharmacogenetic-based decisions. The strategy relies on allele-specific ligation to discriminate base sequence variations at the SNP site and the extension of generated products by isothermal amplification and recombinase polymerase amplification (RPA). Having demonstrated the assay principle, the variables for the adequate integration of the ligation-amplification process were studied and compared to a conventional PCR approach. One key result was the development of RPA in a universal format using short-length primers, which enabled detection based on selective hybridisation on a barcode-DNA chip and a low-cost optical sensor. As proof of concept, we successfully discriminated genetic variants related to cardiovascular diseases and the adequate prescription of oral anticoagulant antagonists of vitamin K (genes CYP2C9 and VKROC1).The authors acknowledge the financial support received from the Generalitat Valenciana (GRISOLIA/2014/024PhD Grant and GVA-FPI-2017PhD Grant) and the Spanish Ministry of Economy and Competitiveness (MINECO Project CTQ2016-75749-R).ElsevierDepartamento de QuímicaInstituto Interuniversitario de Investigación de Reconocimiento Molecular y Desarrollo TecnológicoEscuela Técnica Superior de Ingeniería Agronómica y del Medio NaturalGeneralitat ValencianaMinisterio de Economía y CompetitividadRepositorio Institucional de la Universitat Politècnica de València Riunet20192019-01-01journal articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfapplication/pdfhttps://riunet.upv.es/handle/10251/141435reponame:RiuNet. Repositorio Institucional de la Universitat Politécnica de Valénciainstname:Universitat Politècnica de València (UPV)InglésengGeneralitat Valenciana https://doi.org/10.13039/501100003359 ACIF%2F2017%2F031Generalitat Valenciana https://doi.org/10.13039/501100003359 GRISOLIA%2F2014%2F024Ministerio de Economía y Competitividad http://dx.doi.org/10.13039/501100003329 CTQ2016-75749-R BIOSENSORES HOLOGRAFICOS. PRUEBA DE CONCEPTO Y DEMOSTRACION EN APLICACIONES CLINICASopen accesshttp://purl.org/coar/access_right/c_abf2Reconocimiento - No comercial - Sin obra derivada (by-nc-nd) http://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:riunet.upv.es:10251/1414352026-06-13T07:49:27Z
dc.title.none.fl_str_mv Allele-specific ligation and recombinase polymerase amplification for the detection of single nucleotide polymorphisms
title Allele-specific ligation and recombinase polymerase amplification for the detection of single nucleotide polymorphisms
spellingShingle Allele-specific ligation and recombinase polymerase amplification for the detection of single nucleotide polymorphisms
Lázaro-Zaragozá, Ana
Universal RPA
Ligation
SNP
Optical sensor
Hybridization chip
Personalised healthcare
QUIMICA ANALITICA
title_short Allele-specific ligation and recombinase polymerase amplification for the detection of single nucleotide polymorphisms
title_full Allele-specific ligation and recombinase polymerase amplification for the detection of single nucleotide polymorphisms
title_fullStr Allele-specific ligation and recombinase polymerase amplification for the detection of single nucleotide polymorphisms
title_full_unstemmed Allele-specific ligation and recombinase polymerase amplification for the detection of single nucleotide polymorphisms
title_sort Allele-specific ligation and recombinase polymerase amplification for the detection of single nucleotide polymorphisms
dc.creator.none.fl_str_mv Lázaro-Zaragozá, Ana
Yamanaka, Eric-Seiti
Maquieira, Angel|||0000-0003-4641-4957
Tortajada-Genaro, Luis Antonio|||0000-0003-4021-5607
author Lázaro-Zaragozá, Ana
author_facet Lázaro-Zaragozá, Ana
Yamanaka, Eric-Seiti
Maquieira, Angel|||0000-0003-4641-4957
Tortajada-Genaro, Luis Antonio|||0000-0003-4021-5607
author_role author
author2 Yamanaka, Eric-Seiti
Maquieira, Angel|||0000-0003-4641-4957
Tortajada-Genaro, Luis Antonio|||0000-0003-4021-5607
author2_role author
author
author
dc.contributor.none.fl_str_mv Departamento de Química
Instituto Interuniversitario de Investigación de Reconocimiento Molecular y Desarrollo Tecnológico
Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural
Generalitat Valenciana
Ministerio de Economía y Competitividad
Repositorio Institucional de la Universitat Politècnica de València Riunet
dc.subject.none.fl_str_mv Universal RPA
Ligation
SNP
Optical sensor
Hybridization chip
Personalised healthcare
QUIMICA ANALITICA
topic Universal RPA
Ligation
SNP
Optical sensor
Hybridization chip
Personalised healthcare
QUIMICA ANALITICA
description [EN] A novel multiplex detection of single nucleotide polymorphisms (SNPs), with point-of-care testing as its aim, is reported for supporting pharmacogenetic-based decisions. The strategy relies on allele-specific ligation to discriminate base sequence variations at the SNP site and the extension of generated products by isothermal amplification and recombinase polymerase amplification (RPA). Having demonstrated the assay principle, the variables for the adequate integration of the ligation-amplification process were studied and compared to a conventional PCR approach. One key result was the development of RPA in a universal format using short-length primers, which enabled detection based on selective hybridisation on a barcode-DNA chip and a low-cost optical sensor. As proof of concept, we successfully discriminated genetic variants related to cardiovascular diseases and the adequate prescription of oral anticoagulant antagonists of vitamin K (genes CYP2C9 and VKROC1).
publishDate 2019
dc.date.none.fl_str_mv 2019
2019-01-01
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://riunet.upv.es/handle/10251/141435
url https://riunet.upv.es/handle/10251/141435
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv Generalitat Valenciana https://doi.org/10.13039/501100003359 ACIF%2F2017%2F031
Generalitat Valenciana https://doi.org/10.13039/501100003359 GRISOLIA%2F2014%2F024
Ministerio de Economía y Competitividad http://dx.doi.org/10.13039/501100003329 CTQ2016-75749-R BIOSENSORES HOLOGRAFICOS. PRUEBA DE CONCEPTO Y DEMOSTRACION EN APLICACIONES CLINICAS
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Reconocimiento - No comercial - Sin obra derivada (by-nc-nd)
http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Reconocimiento - No comercial - Sin obra derivada (by-nc-nd)
http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
instname:Universitat Politècnica de València (UPV)
instname_str Universitat Politècnica de València (UPV)
reponame_str RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
collection RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.301603

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