Tehran University Medical Journal

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Background: JAK2 is a nonreceptor tyrosine kinase that plays a major role in myeloid disorders. This mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the JAK2 gene, located on the chromosome 9p, leading to a substitution of valine to phenylalanine at amino acid position 617 in the JAK2 protein. In this study we compared the amplification refractory mutation (ARMS) assay and allele- specific (AS- PCR) to evaluate JAK2V617F mutation patients with non-CML myeloproliferative neoplasms (MPNS). Methods: In this experimental study we evaluated JAK2 mutation in 58 patients with a known or suspected diagnosis of a myeloproliferative neoplasm by simple randomized sampling. The mutation was detected by ARMS-PCR and AS-PCR in patients. In order to verify the methods, amplified products from some patients were sequenced. Results: The JAK2 V617F mutation was detected in 86.6%(26/30) of patients with polycythemia vera and 61.5%(8/13) of patients with idiopathic myelofibrosis by ARMS-PCR and AS-PCR. 46.6%(7.15) of essential thrombocythemia patients were positive using ARMS- PCR method while 53%(8.15) of then were positive when AS- PCR were used. The mutation was confirmed by sequencing. Conclusions: The incidence of JAK2 mutation using above PCR methods is similar to previous studies. The different results may depend on the molecular technique used

Keywords: Mutation, myeloproliferative, neoplasm, PCR

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