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A complete miniaturised genotyping system for the detection of single nucleotide polymorphisms in human DNA samples

Mohammed, Mazher-Iqbal and Sills, Graeme J. and Brodie, Martin J. and Ellis, E. and Girkin, J.M. (2009) A complete miniaturised genotyping system for the detection of single nucleotide polymorphisms in human DNA samples. Sensors and Actuators B: Chemical, 139 (1). pp. 83-90. ISSN 0925-4005

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We describe the design, construction and performance of a complete palm-sized device capable of rapid discrimination of a single nucleotide polymorphism in human DNA. The analysis of the DNA is achieved by means of an analysis of the temperature dependent change in fluorescence of hybridised fluorescent probes undergoing Förster resonance energy transfer. The developed device was used to accurately and reproducibly genotype the CYP3A5*3 polymorphism from nine epilepsy patient DNA samples, and provides a useful point of care assay for analyzing this gene which has been implicated in the metabolism of commonly administered antiepileptic drugs. The device gave results within 10 min which is comparable to the other commercially available genotyping devices, and was found to have comparable levels of sensitivity and accuracy, validating its potential as a point of care genotyping instrument.

Item type: Article
ID code: 13175
Keywords: single nucleotide polymorphism, förster resonance energy transfer, genotyping device, point of care, mutation detection, Therapeutics. Pharmacology, Pharmacy and materia medica, Microbiology, Materials Chemistry, Instrumentation, Surfaces, Coatings and Films, Metals and Alloys, Electronic, Optical and Magnetic Materials, Electrical and Electronic Engineering, Condensed Matter Physics
Subjects: Medicine > Therapeutics. Pharmacology
Medicine > Pharmacy and materia medica
Science > Microbiology
Department: Faculty of Science > Strathclyde Institute of Pharmacy and Biomedical Sciences
Faculty of Engineering > Bioengineering
Faculty of Science > Institute of Photonics
Depositing user: Ms Ann Barker-Myles
Date Deposited: 12 Oct 2009 10:51
Last modified: 10 Dec 2015 18:22

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