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Novel application of seldi-tof mass spectrometer in genotyping and personalized health care of clotting disorders
Abstract number: PC-036
Yang1 S., Xu2 L., Wu1 H.M.
11Pathology 22Pharmacology, Ohio State University, Columbus, USA
How-to-cite Yang S, Xu L, Wu HM. Novel application of seldi-tof mass spectrometer in genotyping and personalized health care of clotting disorders. Journal of Thrombosis and Haemostasis 2009; Volume 7, Supplement 2: Abstract PC-036
Single nucleotide polymorphisms (SNPs) are genetic markers that determine an individual's susceptibility to various diseases. SNPs have also been used as molecular markers to predict drug efficacy and safety. In this study, we report successful clinical applications of the Surface-enhanced laser desorption and ionization (SELDI-TOF) mass spectrometer in genotyping relevant SNPs for the care of patients with clotting disorders. This includes 1) SNPs (VKORC1, CYP2C9) influencing warfarin drug sensitivity and safety, 2) SNPs (CYP2C19) impacting Plavix's drug efficacy, and 4) SNPs (Prothrombin 20210G>A, Factor V Leiden 1691G>A, MTHFR 677C>T) determining genetic risks for clotting disorders. In this new platform, DNA containing the targeted SNPs from patients is first amplified by PCRs and then undergoes single base extension to generate specific SNP products. Afterwards, genetic variants displaying different masses are bound to Q10 anionic proteinChips and then genotyped using a SELDI-TOF in a multiplexed fashion. SELDI-TOF mass spectrometer offers a unique property of on-chip sample enrichment and clean-up, making it superior to standard mass spectrometers. Turnaround time from sample collection to the reporting of genotypes from multiplexed panel is < 5 h. Analytical and clinical validation studies for these clinical genotyping tests are completed. In summary, we have devised a novel multiplex genotyping method using a SELDI-TOF mass spectrometer. This test is fast, accurate, cost effective, and therefore provides a superb platform to help improve patient outcomes in our clinical practice through pharmacogenomics and personalized health care.
Disclosure of interest: none declared.
To cite this abstract use the following format:
Journal of Thrombosis and Haemostasis 2007; Volume 5, Supplement 2: abstract number
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