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Examining the Frequency of the JAK2 (V617F) Mutation in Patients with Myeloproliferative Diseases in North Eastern Iran and the Effect of Treatment Intervention

مجله گزارش های بیوشیمی و زیست شناسی مولکولی، دوره: 9، شماره: 2
Year: 1399
COI: JR_RBMB-9-2_008
Language: EnglishView: 128
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Mojila Nasseri - Department of Biochemistry, Payamenoor University, Tehran, Iran
Fatemeh Keyfi - Department of Medical Laboratory Sciences, Varastegan Institute for Medical Sciences, Mashhad, Iran & Pardis Clinical and Genetics Laboratory, Mashhad, Iran
Raheleh Rahbarian - Department of Biochemistry, Payamenoor university, Tehran, Iran
Majid Rajabian - Department of biology, Payamenoor University, Tehran, Iran
Mohammad Reza Abbaszadegan - Pardis Clinical and Genetics Laboratory, Mashhad, Iran & Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, MUMS, Mashhad, Iran


Background: Janus kinase 2 (JAK2) 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 JAK2 (V617F) mutation, which often found in patients with myeloproliferative neoplasms (MPNs). As a result of this mutation, JAK2 is constitutively activated leading to uncontrolled cell growth. The present study aimed to investigate the frequency and relationship of the JAK2 (V617F) mutation in a population of patients with MPNs in Iran. Methods: 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 JAK2 (V617F) mutation in the genomic DNA isolated from patient peripheral blood samples. Results:  Of the 213 patients with MPDs, approximately 60 (28%) patients were positive for the JAK2 (V617F) mutation. Polycythemia Vera (PV, 42.11%) was the most common MPD, followed by Essential Thrombocythemia (ET, 29.82%), Primary Myelofibrosis (MF, 12.28%), and Chronic Myeloid Leukemia (CML, 10.5%). A significant relationship between all types of MPDs and the clinical course (p< 0.05) was observed. The relationship between age and gender among all types of MPD disease was not significant (p> 0.05). Conclusions: Of the examined cohort in North Eastern Iran, 28% of the patients with MPNs were found to have the JAK2 (V617F) mutation which determining the presence of the JAK2 (V617F) mutation helps to decide the correct form of treatment.


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Nasseri, Mojila and Keyfi, Fatemeh and Rahbarian, Raheleh and Rajabian, Majid and Abbaszadegan, Mohammad Reza,1399,Examining the Frequency of the JAK2 (V617F) Mutation in Patients with Myeloproliferative Diseases in North Eastern Iran and the Effect of Treatment Intervention,

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