IDENTIFICATION OF A JAK2 MUTATION INVOLVED IN VAQUEZ POLYGLOBULIA
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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.
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37 Claims
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1-20. -20. (canceled)
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21. A non-human transgenic animal expressing recombinant JAK2 V617F comprising a mutation on amino acid 617, more particularly the V617F mutation (“
- JAK2 V617F”
) according to SEQ ID NO 1, or a similar sequence in other mammals. - View Dependent Claims (22, 23, 31, 32, 33, 34, 35, 36, 37)
- JAK2 V617F”
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24. An ex vivo or in vitro method to detect the presence or absence of the JAK2 V617F variant in a sample from a patient suffering from or likely to develop PV or any other myeloproliferative disorder, method comprising:
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a) obtaining a sample from the patient, b) detecting the presence or absence of the JAK2 V617F variant, wherein the presence of said variant is an indication of PV or of any other myeloproliferative disorder. - View Dependent Claims (25, 26, 27)
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- 28. A monoclonal antibody specifically recognizing the JAK2 V617F variant.
Specification