Identification of a JAK2 mutation in Polycythemia Vera
AssigneeIpsogen
InventorsWilliam Vainchenker, Valeria Ugo, James Chloe, Jean-Pierre Le Couedic, Nicole Casadevall
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Abstract
The present invention concerns the V617F variant of the protein-tyrosine kinase JAK2, said variant being responsible for Vaquez Polyglobulia. The invention also relates to a first intention diagnostic method for erythrocytosis and thrombocytosis allowing their association with myeloproliferative disorders, or to the detection of the JAK2 V617F variant in myeloproliferative disorders allowing their reclassification in a new nosological group.
Claims7
An in vitro method to determine the presence of the G1849T mutation in the JAK2 gene in a human patient comprising:
- a) obtaining and analyzing a nucleic acid sample from the human patient;
- b) detecting a T in the JAK2 gene at position 2343 of SEQ ID No 2 in the sample;
- and
- c) recording the presence of a T in the JAK2 gene at position 2343 of SEQ ID No 2 in the sample.
An in vitro method to determine if a human patient is currently suffering from or is likely to develop a myeloproliferative disorder selected from the group consisting of Polycythemia Vera, essential thrombocythemia, and idiopathic myelofibrosis comprising:
- a) obtaining and analyzing a nucleic acid sample from the human patient;
- b) detecting a T in the JAK2 gene at position 2343 of SEQ ID No 2 in the sample;
- and
- c) recording the presence of a T in the JAK2 gene at position 2343 of SEQ ID No 2 in the sample;
- wherein the presence of a T at position 2343 of SEQ ID No 2 indicates the human patient is currently suffering from or is likely to develop a myleoproliferative disorder selected from the group consisting of Polycythemia Vera, essential thrombocythemia, and idiopathic myelofibrosis.
Dependencies are inferred from the claim text.