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Full-text held externally
- PMID: 17690215
- UKPMCID: 17690215
- DOI: 10.2353/jmoldx.2007.070014
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Microfluidic platform for single nucleotide polymorphism genotyping of the thiopurine S-methyltransferase gene to evaluate risk for adverse drug events.
Chowdhury, Jeeshan; Kagiala, Govind V; Pushpakom, Sudeep; Lauzon, Jana; Makin, Alistair; Atrazhev, Alexey; Stickel, Alex; Newman, William G; Backhouse, Christopher J; Pilarski, Linda M
The Journal of molecular diagnostics : JMD. 2007;9(4):521-9.
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Full-text held externally
- PMID: 17690215
- UKPMCID: 17690215
- DOI: 10.2353/jmoldx.2007.070014
Abstract
Prospective clinical pharmacogenetic testing of the thiopurine S-methyltransferase gene remains to be realized despite the large body of evidence demonstrating clinical benefit for the patient and cost effectiveness for health care systems. We describe an entirely microchip-based method to genotype for common single nucleotide polymorphisms in the thiopurine S-methyltransferase gene that lead to serious adverse drug reactions for patients undergoing thiopurine therapy. Restriction fragment length polymorphism and allele-specific polymerase chain reaction have been adapted to a microfluidic chip-based polymerase chain reaction and capillary electrophoresis platform to genotype the common *2, *3A, and *3C functional alleles. In total, 80 patients being treated with thiopurines were genotyped, with 100% concordance between microchip and conventional methods. This is the first report of single nucleotide polymorphism detection using portable instrumentation and represents a significant step toward miniaturized for personalized treatment and automated point-of-care testing.