Detection Mutations of JAK2 exon 12 in Patients with JAK2 (V617F)-negative Myeloproliferative Disorders.

BACKGROUND: Mutations in exon 12 of JAK2 gene are detected as clonal markers in hematopoietic lineages in myeloproliferative disorders (MPNs). Our aim was, to study the relation between N542-E543del mutation of JAK2 gene and myeloproliferative neoplasms in V617Fnegative patients.

PATIENTS AND METHODS: DNA specimen from 34 patients and 44 healthy controls were genotyped using ARMs- PCR method. We analyzed exon 12 JAK2 aberration in 34 myeloproliferative cases to be readily detected by both ARMS-PCR and DNA analysis regardless of whether peripheral blood or bone marrow cells was manipulated as the origin of RNA.

RESULTS: In this case-control study, there was no significant difference in Pearson chi square analysis between the patients and control groups in genotype distribution of the frequency of single nucleotide polymorphism rs7869668 of JAK2 exon 12 (P > 0.05). Also, gene detection finding showed that the patients were negative of JAK2-V617F mutation.

DISCUSSION AND CONCLUSION: Present finding on a small number of patients diagnosed of various categories of MPDs revealed and needs more investigation and data for the prevalence and the incidence of the JAK2-V617F mutation. However, the clinical and genotyping of finding a disorder and non-significant correlation between patients and control group in this study in such a small fraction of the patients is unknown.