Polymorphism genotyping based on loop-mediated isothermal amplification and smartphone detection

[EN] The genotyping of a single-nucleotide polymorphism (SNP) is addressed through methods based on loop-mediated isothermal amplification (LAMP) combined with user-friendly optical read-outs to cover the current demand for point-of-care DNA biomarker detection. The modification of primer design and...

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Detalles Bibliográficos
Autores: YAMANAKA, ERIC-SEITI, Tortajada-Genaro, Luis Antonio|||0000-0003-4021-5607, Pastor Navarro, Nuria, Maquieira, Angel|||0000-0003-4641-4957
Tipo de recurso: artículo
Fecha de publicación:2018
País:España
Institución:Universitat Politècnica de València (UPV)
Repositorio:RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
Idioma:inglés
OAI Identifier:oai:riunet.upv.es:10251/142518
Acceso en línea:https://riunet.upv.es/handle/10251/142518
Access Level:acceso abierto
Palabra clave:Single-nucleotide polymorphism
Loop-mediated isothermal amplification
Point-of-care optical testing
Smartphone
Phannacogenomics
QUIMICA ANALITICA
Descripción
Sumario:[EN] The genotyping of a single-nucleotide polymorphism (SNP) is addressed through methods based on loop-mediated isothermal amplification (LAMP) combined with user-friendly optical read-outs to cover the current demand for point-of-care DNA biomarker detection. The modification of primer design and reaction composition improved the assay selectivity yielding allele-specific results and reducing false-positive frequency. Furthermore, the reduced cost, ease of use and effectiveness of calorimetric detection (solution and hybridisation chip formats) were availed for the image capture by a smartphone, reching high sensitivity. In order to evaluate their discriminating capacities, LAMP-based methods were applied to human samples to genotype a SNP biomarker (rs1954787) located in the GRIK4 gene and related to the treatment response to anti-depressants drugs. Sensitive (limit of detection: 100 genomic DNA copies), reproducible ( < 15% error), fast (around 70 min) and low-cost assays were accomplished. Patient subgroups were correctly discriminated, agreeing with reference sequencing techniques. The achieved analytical performances using the developed amplification-detection principles confirmed the approach potential for point-of-care optical DNA testing.