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Background Myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. In addition to JAK2V617F mutation, several mutations in the c-MPL gene were described in patients with Philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. The aim of present study was to investigate the frequency of c-MPL and JAK2V617F mutations in Iranian patients with Philadelphia-negative myeloproliferative disorders. Material and Methods Peripheral blood samples from 60 patients with Philadelphia-negative MPD) subgroups ET and PMF) and 25 healthy subjects as control were collected in order to investigate the mutation status of c-MPL and Jak2V617F by using Amplification-Refractory Mutation System (ARMS) and Allele-Specific PCR (AS-PCR), respectively and results were confirmed by sequencing. Results Among the total 60 patients studied, 34 (56.6%) and 1(1.7%) had Jak2V617F and c-MPL mutation, respectively. Patients with Jak2V617F mutation had higher WBC counts and hemoglobin concentration than those without the mutation (p= 0.005, p=0.003). In addition for all healthy subjects in control group, mutation was negative. Conclusions The present study revealed that the c-MPL mutations unlike the Jak2V617F mutations were rare in Iranian patients with Ph-negative MPNs and the low mutation rate should be considered in the design of screening strategies of MPD patients.

Keywords: ARMS –PCR, c- MPL mutation, JAK2V617F, Myeloproliferative Disorders

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