Low-cost genotyping method based on allele-specific recombinase polymerase amplification and colorimetric microarray detection

[EN] The costs of current genotyping methods limit their application to personalized therapy. The authors describe an alternative approach for the detection of single-point-polymorphisms using recombinant polymerase amplification as an allele-specific technique. The use of short and chemically modif...

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Detalhes bibliográficos
Autores: YAMANAKA, ERIC-SEITI, Tortajada-Genaro, Luis Antonio|||0000-0003-4021-5607, Maquieira, Angel|||0000-0003-4641-4957
Formato: artículo
Fecha de publicación:2017
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:10251/149083
Acesso em linha:https://riunet.upv.es/handle/10251/149083
Access Level:acceso abierto
Palavra-chave:Pharmacogenomics
SNP genotyping
Isothermal amplification
Micro-well plate
Microchip
Tobacco addiction
3D printer
COMT gene
OPRM1 gene
ANKK1 gene
CHRNA5 gene
QUIMICA ANALITICA
Descrição
Resumo:[EN] The costs of current genotyping methods limit their application to personalized therapy. The authors describe an alternative approach for the detection of single-point-polymorphisms using recombinant polymerase amplification as an allele-specific technique. The use of short and chemically modified primers and locked nucleic acids allowed for a selective isothermal amplification of wild-type or mutant variants at 37 °C within 40 min. An amplification chip platform containing 100 wells was manufactured with a 3D printer and using thermoplastic polylactic acid. The platform reduces reagent consumption and allows parallelization. As a proof of concept, the method was applied to the genotyping of four SNPs that are related to the treatment of tobacco addiction. The target polymorphisms included rs4680 (COMT gene), rs1799971 (OPRM1 gene), rs1800497 (ANKK1 gene), and rs16969968 (CHRNA5 gene). The genotype populations can be well discriminated.