Epidemiology evaluation of common mutations in JAK2 exon 12 protein in patients with Idiopathic Erythrocythosis

Primary erythrocytosis caused defect in progenitor stem cells and this cells became too sensitive to erythropoietin. The most of acquisitive defect is JAK2V617F mutation that observed in 95% of Polycythemia Vera. This mutation was occurred in exon 14 of JAK2 protein. Other mutations accompany with erythrocytosis is JAK2 exon 12 mutations. The number of this mutations is high. In this study we were survey incident four common mutations in exon 12 of JAK2 protein in Mashhad city.
146 patients with Idiopathic Erythrocytosis practiced in cross section study. Patients DNA was screen for F537-K539delinsL, K539L, H538QK539L and N542-E543del mutations by using ARMS-PCR. To detect PCR production has used 2% agarose gel.
Among four mutations of JAK2 exon 12, just observed N542-E543del in two patients (on male, one female). The mean age of patients with N542E543del mutation was 36±19.79 years and patients with N542E543del negative was 44.62±18.88 years.
The result of this study demonstrated that JAK2 exon 12 mutations isn’t a common abnormality in IE patients. To provide more comprehensive report in IE patients, recommended to investigate JAK2 exon12 mutations in large sample size of IE patients or it is suggested DNA sequencing instead of ARMS-PCR.