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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.