Evaluation of prevalence of JAK 2 exon 12 gene mutations among Iranian patients with Polycythemia Vera

Background and ObjectivesPolycythemia Vera (PV) is one of the negative BCR-ABL1 myeloproliferative neoplasms arising from hematopoietic progenitors. About 3-4% of PV patients have some mutations in the exon 12 of JAK2 gene. Considering the importance of these mutations in diagnosis of patients with PV, the present study was conducted.
Materials and MethodsIn this descriptive analytical study, JAK2 exon 12 mutations were evaluated in 58 patients with diagnosis of PV in Payvand Laboratory and all of them were negative for V617F mutation. In addition, we had 60 detailed patient files who had V617F mutation. After quality control of extracted genomic DNA, the exon 12 were amplified by PCR. The screening for mutations was performed by direct DNA sequencing. The data were analyzed by SPSS 13 & c2 test.
ResultsIn this study 58 V617F-negative PV patients were studied. 45 (77.6%) cases were male and 13 (22.4%) were female. The mean age of patients was 46.8 ± 4.2. After needed analysis Mutation (E543-D544del) was seen in a 72 years old woman .
Conclusions There is low frequency of exon 12 mutation in Iranian population which can be as a result of low number of patients or low frequency in Iranian population. So study on larger population should be informative.