Abstract

 Background and Objectives

 Somatic point mutation in JAK2 gene is characterized by G to T transversion at nucleotide 1849 in exon 12 in the JAK2 gene and results in autonomous activation of JAK2 protein. JAK2 mutation leads to independent cytokine signaling and clonal proliferation of hematopoietic cells in MPNs. Due to absence of any reports for JAK2 V617F mutation in Iranian MPNs patients and its important role in diagnosis, we decided to carry out this study.

 Materials and Methods

 In this experimental study, we evaluated JAK2 mutation in 100 MPNs patients with diagnosis of PV (n=44), PMF (n=31) and ET(n=25) by simple randomized sampling. After extraction of genomic DNA from whole blood buffy coat, detection of mutation was done using allele specific PCR. Agarose gel electrophoresis was used for observation of PCR products. For confirmation of results, PCR-RFLP using BsaXI was applied.

 Results

 Using allele specific PCR and PCR-RFLP, frequency of JAK2 V617F mutation was evaluated to be 89%, 61%, and 56% in PV, PMF and ET, respectively.

 Conclusions

 Frequency of JAK2 mutation in our study is compatible with previous reports. According to WHO criteria, allele specific PCR can be applied for detection of JAK2 mutation in Iranian patients with diagnosis of MPNs.

 Key words : JAK2, Protein Tyrosine Kinase, Polymerase Chain Reaction, Mutation, Neoplasms