Development of Test System for Detection of V617F Mutation of JAK2 Gene in Patients with Chronic Myeloproliferative Disorders

TitleDevelopment of Test System for Detection of V617F Mutation of JAK2 Gene in Patients with Chronic Myeloproliferative Disorders
Publication TypeJournal Article
Year of Publication2009
AuthorsDybkov, MV, Gartovska, IR, Telegeev, GD, Maliuta, SS
Short TitleNauka innov.
DOI10.15407/scin5.06.059
Volume5
Issue6
SectionScientific and Technical Innovative Projects of National Academy of Sciences of Ukraine
Pagination59-63
LanguageUkrainian
Abstract
V617F mutation of jak2 gene is an important diagnostic criterion for chronic myeloproliferative disorders. The testsystem for detection of the mutation by using the method of reverse transcription polymerase chain reaction and direct sequencing of PCR products was proposed.
Keywordsdiagnostics, JAK2, myeloproliferative disorders, PCR, V617F
References
1. Dameshek W. Some speculations on the myeloproliferative syndromes. Blood. 1951. V. 6. P. 372-375.
2. Vardiman J.W., Harris N.L., Brunning R.D. The World Health Organization (WHO) classification of the myeloid neo plasms. Blood. 2002. V. 100. P. 2292-2302.
https://doi.org/10.1182/blood-2002-04-1199
3. Baxter E.J., Scott L.M., Campbell P.J. et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005. V. 365, N 9464. P. 1054-1061.
https://doi.org/10.1016/S0140-6736(05)74230-6
4. Kralovics R., Passamonti F., Buser A.S. et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005. V. 352, N 17. P. 1779-1790.
https://doi.org/10.1056/NEJMoa051113
5. Levine R.L., Wadleigh M., Cools J. et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005. V. 7, N 4. P. 387-397.
https://doi.org/10.1016/j.ccr.2005.03.023
6. Zhao R., Xing S., Li Z. et al. Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem. 2005. V. 280, N 24. P. 22788-22792.
https://doi.org/10.1074/jbc.C500138200
7. James C., Ugo V., Le Couedic J.P. et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005. V. 434. P. 1144-1148.
https://doi.org/10.1038/nature03546
8. Scott L.M., Tong W., Levine R.L. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med. 2007. V. 356, N 5. P. 459-468.
https://doi.org/10.1056/NEJMoa065202
9. Tefferi A., Vardiman J.W. Classification and diagnosis of myeloproliferative neoplasms: The 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia. 2008. V. 22. P. 14-22.
https://doi.org/10.1038/sj.leu.2404955
10. Spivak J.L., Silver R.T. The revised World Health Organization diagnostic criteria for polycythemia vera, essential thrombocytosis, and primary myelofibrosis: an alternative proposal. Blood. 2008. V. 112, N 2. P. 231-239.
https://doi.org/10.1182/blood-2007-12-128454
11. Chomczynski P., Sacchi N. Single-step method of RNA iso lation by acid guanidinum thiocyanate-phenol-chloroform extraction. Analyt. Biochem. 1987. V. 162. P. 156-159.
https://doi.org/10.1016/0003-2697(87)90021-2
12. Telegejev G.D., Dybkov M.V., Bozhko M.V. ta in. Monitoryng hronichnogo mijelolejkozu za dopomogoju molekuljarno-biologichnyh metodiv (metodychni rekomendacii'). Respublikans'kyj centr naukovo-medychnoi' informacii'. Kyi'v, 1997 [in Ukrainian].
13. Hussein K., Bock O., Seegers A., Flasshove M. et al. Myelofibrosis evolving during imatinib treatment of a chronic myeloproliferative disease with coexisting BCR-ABL translocation and JAK2V617F mutation. Blood. 2007. V. 109, N 9. P. 4106-4107.
https://doi.org/10.1182/blood-2006-12-061135
14. Bocchia M., Vannucchi A.M., Gozzetti A. et al. Insights into JAK2–V617F mutation in CML. Lancet Oncol. 2007. V. 8. P. 864-866.
https://doi.org/10.1016/S1470-2045(07)70295-4