High Resolution Melting Analysis for JAK2 Exon 14 and Exon 12 Mutations

Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis.

Diverse JAK2 exon 12 mutations have been described in patients with V617F-negative polycythemia vera. Development of a sensitive detection assay capable of identifying any of these mutations is required for medium-throughput diagnostic screens. Non-mutated and mutant JAK2 exon 12 alleles were amplified from patient samples and cloned into plasmid vectors, then used to determine the sensitivity ...

JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.

BACKGROUND The V617F mutation, which causes the substitution of phenylalanine for valine at position 617 of the Janus kinase (JAK) 2 gene (JAK2), is often present in patients with polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis. However, the molecular basis of these myeloproliferative disorders in patients without the V617F mutation is unclear. METHODS We searched f...

STAT1 activation in association with JAK2 exon 12 mutations.

JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosis.

JAK2 exon 12 mutations were detected in 4 out of 20 polycythemia vera and idiopathic erythrocytosis V617F-negative patients and were only present in the myeloid lineage. Initial hematologic data of these patients differ from those of V617F-positive patients, but there is no difference in thrombotic development and myelofibrotic transformation.

JAK2 V617F, MPL W515L and JAK2 Exon 12 Mutations in Chinese Patients with Primary Myelofibrosis.

OBJECTIVE JAK2 V617F, MPL W515L and JAK2 exon 12 mutations are novel acquired mutations that induce constitutive cytokine-independent activation of the JAK-STAT pathway in myeloproliferative disorders (MPD). The discovery of these mutations provides novel mechanism for activation of signal transduction in hematopoietic malignancies. This research was to investigate their prevalence in Chinese p...