Microfluidic platform for single nucleotide polymorphism genotyping of the thiopurine S-methyltransferase gene to evaluate risk for adverse drug events.
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| 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.
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| Authors | Jeeshan Chowdhury, Govind V Kaigala, Sudeep Pushpakom, Jana Lauzon, Alistair Makin, Alexey Atrazhev, Alex Stickel, William G Newman, Christopher J Backhouse, Linda M Pilarski |
| Journal | The Journal of molecular diagnostics : JMD (J Mol Diagn) Vol. 9 Issue 4 Pg. 521-9 (09 2007) ISSN: 1525-1578 [Print] United States |
| PMID | 17690215 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't) |
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