en بیوشیمی Biochemistry مقالات اصلی Original Article <div style="text-align: justify;"><strong><em>Background: </em></strong>Janus kinase 2 (<em>JAK2</em>) is a tyrosine kinase located in the cytoplasm that plays a critical role in the signal transduction of cytokines and growth hormones. The conversion of valine to phenylalanine at the polypeptide position 617 results in the <em>JAK2</em> (V617F) mutation, which often found in patients with myeloproliferative neoplasms (MPNs). As a result of this mutation, <em>JAK2</em> is constitutively activated leading to uncontrolled cell growth. The present study aimed to investigate the frequency and relationship of the <em>JAK2</em> (V617F) mutation in a population of patients with MPNs in Iran.<br> <br> <strong><em>Methods:</em></strong> A total of 213 patients with myeloproliferative diseases (MPDs), were included in the study. Real-time PCR was used to detect the presence of the <em>JAK2 </em>(V617F) mutation in the genomic DNA isolated from patient peripheral blood samples.<br> <br> <strong><em>Results:</em></strong> &nbsp;Of the 213 patients with MPDs, approximately 60 (28%) patients were positive for the <em>JAK2</em> (V617F) mutation. Polycythemia Vera (PV, 42.11%) was the most common MPD, followed by Essential Thrombocythemia (ET, 29.82%), Primary&nbsp;Myelofibrosis&nbsp;(MF, 12.28%), and Chronic Myeloid Leukemia&nbsp;(CML, 10.5%). A significant relationship between all types of MPDs and the clinical course (<em>p</em>< 0.05) was observed. The relationship between age and gender among all types of MPD disease was not significant (<em>p</em>> 0.05).<br> <br> <strong><em>Conclusions:</em></strong> Of the examined cohort in North Eastern Iran, 28% of the patients with MPNs were found to have the <em>JAK2</em> (V617F) mutation which determining the presence of the <em>JAK2</em> (V617F) mutation helps to decide the correct form of treatment.</div> AK2 (V617F), JAK-STAT pathway, MPD Real-Time PCR, Treatment 188 192 http://rbmb.net/browse.php?a_code=A-10-353-1&slc_lang=en&sid=1 Mojila Nasseri 100319475328460017590 100319475328460017590 No Department of Biochemistry, Payamenoor University, Tehran, Iran Fatemeh Keyfi 100319475328460017591 100319475328460017591 No Department of Medical Laboratory Sciences, Varastegan Institute for Medical Sciences, Mashhad, Iran & Pardis Clinical and Genetics Laboratory, Mashhad, Iran Raheleh Rahbarian 100319475328460017592 100319475328460017592 No Department of Biochemistry, Payamenoor university, Tehran, Iran Majid Rajabian 100319475328460017593 100319475328460017593 No Department of biology, Payamenoor University, Tehran, Iran Mohammad Reza Abbaszadegan abbaszadeganmr@mums.ac.ir 100319475328460017594 100319475328460017594 Yes Pardis Clinical and Genetics Laboratory, Mashhad, Iran & Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, MUMS, Mashhad, Iran