title: Methods for the detection of the JAK2 V617F mutation in human myeloproliferative disorders.
abstract: A single acquired mutation in the JAK2 gene has recently been described in human myeloproliferative disorders, including most patients with polycythemia vera and about half of those with essential thrombocythemia and idiopathic myelofibrosis. Reliable and easily implemented methods for detection of this V617F mutation promise to revolutionize the way these disorders are diagnosed and classified, and may in the future have implications for targeted therapeutics. Two polymerase chain reaction-based methods for detection of the mutation are described here. One method is based on allele-specific amplification of the mutant band, and the other on elimination of a restriction enzyme recognition sequence by the mutation. Both methods are significantly more sensitive than conventional sequencing techniques, and could be readily implemented in a molecular diagnostic laboratory.
authors.affiliation: Department of Haematology, University of Cambridge, UK.
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Campbell
authors.forename: Linda M
authors.initials: LM
authors.lastname: Scott
authors.forename: E Joanna
authors.initials: EJ
authors.lastname: Baxter
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Bench
authors.forename: Anthony R
authors.initials: AR
authors.lastname: Green
authors.forename: Wendy N
authors.initials: WN
authors.lastname: Erber
mesh_terms: D019943:Amino Acid Substitution; D003937:Diagnosis, Differential; D006801:Humans; D053614:Janus Kinase 2; D020125:Mutation, Missense; D009196:Myeloproliferative Disorders / Q000175:diagnosis* / Q000235:genetics*; D011087:Polycythemia Vera / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D055728:Primary Myelofibrosis / Q000235:genetics; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D013922:Thrombocytosis / Q000235:genetics
chemical_list: D011518:Proto-Oncogene Proteins; D011505:Protein-Tyrosine Kinases; C507924:JAK2 protein, human; D053614:Janus Kinase 2