title: Fast and reliable mutation detection of the complete exon 11-15 JAK2 coding region using non-isotopic RNase cleavage assay (NIRCA).
abstract: The screening for JAK2 V617F mutation in patients with polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis offers crucial information for the final diagnosis of these disorders. Recently, several JAK2 exons 12 and 14 mutations have been detected in V617F-negative patients with idiopathic erythrocytosis. The need for a rapid and accurate assay for the mutation screening in both exons 12 and 14 prompted us for the application of a method for the analysis of the entire coding region between exons 11 and 15. We applied the non-isotopic RNase cleavage assay and the accuracy of the method was verified in a series of V617F-positive, V617F-negative patients and healthy individuals, with no false results. This method can be applied in any laboratory without the requirement of specific sophisticated equipment.
authors.affiliation: First Department of Internal Medicine, Democritus University of Thrace, Alexandroupolis, Greece.
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Kambas
authors.forename: Ioannis
authors.initials: I
authors.lastname: Mitroulis
authors.forename: Ioannis
authors.initials: I
authors.lastname: Kourtzelis
authors.forename: Akrivi
authors.initials: A
authors.lastname: Chrysanthopoulou
authors.forename: Matthaios
authors.initials: M
authors.lastname: Speletas
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Ritis
mesh_terms: D000483:Alleles; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007963:Leukocytes, Mononuclear / Q000166:cytology; D009154:Mutation; D011086:Polycythemia / Q000175:diagnosis / Q000235:genetics; D011087:Polycythemia Vera / Q000175:diagnosis / Q000235:genetics; D055728:Primary Myelofibrosis / Q000175:diagnosis / Q000235:genetics; D015203:Reproducibility of Results; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012260:Ribonucleases / Q000737:chemistry / Q000378:metabolism*; D012680:Sensitivity and Specificity; D013920:Thrombocythemia, Essential / Q000175:diagnosis / Q000235:genetics
chemical_list: D053614:Janus Kinase 2; D012260:Ribonucleases