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

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 fluores...

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Bibliographic Details
Published in:Sensors and actuators. B, Chemical Chemical, 2009-05, Vol.139 (1), p.83-90
Main Authors: Mohammed, Mazher-Iqbal, Sills, Graeme J., Brodie, Martin J., Ellis, Elizabeth. M., Girkin, John. M.
Format: Article
Language:English
Subjects:
Förster resonance energy transfer
Genotyping device
Mutation detection
Point of care
Single nucleotide polymorphism
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Summary: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 10min 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.
ISSN:0925-4005
1873-3077
DOI:10.1016/j.snb.2008.09.015