Visual screening for JAK2V617F mutation by a disposable dipstick

作者: Jessica K. Konstantou , Alexandra C. Iliadi , Penelope C. Ioannou , Theodore K. Christopoulos , Nikolaos I. Anagnostopoulos

DOI: 10.1007/S00216-010-3747-Z

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摘要: During the last 5 years, it was discovered that JAK2V617F somatic mutation is present in virtually all patients with polycythemia vera and a large proportion of essential thrombocythemia, primary myelofibrosis, refractory anemia ring sideroblasts thrombocytosis. As result, incorporated as new clonal marker 2008 revision WHO diagnostic criteria. Current methods for JAK2 genotyping include direct sequencing, pyrosequencing, allele-specific PCR electrophoresis, restriction fragment length polymorphism, real-time PCR, DNA-melting curve analysis, denaturing HPLC. Some these are labor intensive time consuming, while others require specialized costly equipment reagents. We report method detection allele by naked eye using dipstick test dry-reagent format. The comprises triprimer combined visual products within minutes test. Specialized instrumentation not involved. requirements highly qualified technical personnel minimized. Because reagents exist dry form on dipstick, there no need multiple pipetting incubation steps.

参考文章(18)
Vaya Tsiakalou, Margarita Petropoulou, Penelope C. Ioannou, Theodore K. Christopoulos, Emmanuel Kanavakis, Nikolaos I. Anagnostopoulos, Ioanna Savvidou, Jan Traeger-Synodinos, Bioluminometric Assay for Relative Quantification of Mutant Allele Burden: Application to the Oncogenic Somatic Point Mutation JAK2 V617F Analytical Chemistry. ,vol. 81, pp. 8596- 8602 ,(2009) , 10.1021/AC901584A
Robert Kralovics, Francesco Passamonti, Andreas S. Buser, Soon-Siong Teo, Ralph Tiedt, Jakob R. Passweg, Andre Tichelli, Mario Cazzola, Radek C. Skoda, A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders The New England Journal of Medicine. ,vol. 352, pp. 1779- 1790 ,(2005) , 10.1056/NEJMOA051113
C James, F Delhommeau, C Marzac, I Teyssandier, J-P Le Couédic, S Giraudier, L Roy, P Saulnier, L Lacroix, S Maury, M Tulliez, W Vainchenker, V Ugo, N Casadevall, Detection of JAK2 V617F as a first intention diagnostic test for erythrocytosis. Leukemia. ,vol. 20, pp. 350- 353 ,(2006) , 10.1038/SJ.LEU.2404069
Jessica K Konstantou, Penelope C Ioannou, Theodore K Christopoulos, Dual-allele dipstick assay for genotyping single nucleotide polymorphisms by primer extension reaction. European Journal of Human Genetics. ,vol. 17, pp. 105- 111 ,(2009) , 10.1038/EJHG.2008.139
Despina P. Kalogianni, Theodora Koraki, Theodore K. Christopoulos, Penelope C. Ioannou, Nanoparticle-based DNA biosensor for visual detection of genetically modified organisms Biosensors and Bioelectronics. ,vol. 21, pp. 1069- 1076 ,(2006) , 10.1016/J.BIOS.2005.04.016
D. P. Kalogianni, V. Bravou, T. K. Christopoulos, P. C. Ioannou, N. C. Zoumbos, Dry-reagent disposable dipstick test for visual screening of seven leukemia-related chromosomal translocations Nucleic Acids Research. ,vol. 35, ,(2007) , 10.1093/NAR/GKL1097
Oliver Bock, Guntram Büsche, Christina Koop, Sabine Schröter, Thomas Bubr, Hans Kreipe, Detection of the Single Hotspot Mutation in the JH2 Pseudokinase Domain of Janus Kinase 2 in Bone Marrow Trephine Biopsies Derived from Chronic Myeloproliferative Disorders The Journal of Molecular Diagnostics. ,vol. 8, pp. 170- 177 ,(2006) , 10.2353/JMOLDX.2006.050064
A. M. Vannucchi, P. Guglielmelli, A. Tefferi, Advances in understanding and management of myeloproliferative neoplasms. CA: A Cancer Journal for Clinicians. ,vol. 59, pp. 171- 191 ,(2009) , 10.3322/CAAC.20009