TY - JOUR
T1 - A complete miniaturised genotyping system for the detection of single nucleotide polymorphisms in human DNA samples
AU - Mohammed, Mazher-Iqbal
AU - Sills, Graeme J.
AU - Brodie, Martin J.
AU - Ellis, E.
AU - Girkin, J.M.
PY - 2009/5
Y1 - 2009/5
N2 - 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.
AB - 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.
KW - single nucleotide polymorphism
KW - förster resonance energy transfer
KW - genotyping device
KW - point of care
KW - mutation detection
UR - http://dx.doi.org/10.1016/j.snb.2008.09.015
U2 - 10.1016/j.snb.2008.09.015
DO - 10.1016/j.snb.2008.09.015
M3 - Article
SN - 0925-4005
VL - 139
SP - 83
EP - 90
JO - Sensors and Actuators B: Chemical
JF - Sensors and Actuators B: Chemical
IS - 1
ER -