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The mutation V617F of gene JAK2 is detected in 95% of patients with genuine polycythemia, in 50% of patients with essential thrombocytemia and idiopathic myelofibrosis. The mutation V617F can be applied as a molecular marker of response to treatment in patients with chronic myeloproliferative diseases associated with this mutation. The technique of quantitative evaluation of V617F (sensitivity up to 0.01%) using polymerase chain reaction is described. This method can be applied to assess the minimal residual disease in patients with chronic myeloproliferative diseases.

Citation

A O Abdullaeva, O A Glinshchikova, S A Suslova, N Kh Shadieva, L Iu Kolosova, L M Meshcheriakova, M V Vakhrusheva, A B Sudarikov. The quantitative evaluation of mutation V617F of gene JAK2 under chronic myeloproliferative diseases]. Klinicheskaia laboratornaia diagnostika. 2012 Jul(7):24-8

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PMID: 22988798

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