Identification of a JAK2 mutation involved in vaquez polyglobulia
View Patent ↗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.
1. An isolated nucleic acid comprising at least 17 consecutive nucleotides of sequence SEQ ID NO 3 or 4, or having at least 95% homology to said at least 17 consecutive nucleotides, wherein the isolated nucleic acid comprises the nucleotide t 261 in SEQ ID NO 3 or t 50 in SEQ ID NO 4, wherein the isolated nucleic further comprises a radioactive, fluorescent or enzymatic label.
2. The isolated nucleic acid according to claim 1 , having at least 98% homology to said at least 17 consecutive nucleotides.
3. The isolated nucleic acid according to claim 1 , consisting essentially of at least 17 consecutive nucleotides.
4. A kit for detecting a G 1849 T mutation in a human Janus kinase 2 (JAK2) gene in a human tumor, wherein the kit comprises one or more primers or probes comprising the isolated nucleic acid of claim 1 , for the specific detection of the presence or absence of the G 1849 T mutation in the human JAK2 gene, wherein the G 1849 T mutation is nucleotide t 261 in SEQ ID NO 3 or t 50 in SEQ ID NO 4.
5. A kit for determining whether a patient is suffering from a myeloproliferative disorder involving a G 1849 T mutation of a human JAK2 gene, wherein the kit comprises one or more probes or primers comprising the isolated nucleic acid of claim 1 , for the specific detection of the presence or absence of the G 1849 T mutation in the human JAK2 gene, and wherein the G 1849 T mutation is nucleotide t 261 in SEQ ID NO 3 or t 50 in SEQ ID NO 4.
6. The kit according to claim 5 , further comprising at least one element chosen from a heat resistant polymerase for polymerase chain reaction (PCR) amplification, one or more solutions for amplification or hybridization or both, and any reagent allowing said specific detection.
7. A kit, comprising a first container containing an isolated nucleic acid and a carrier;
wherein the isolated nucleic acid comprises at least 12 consecutive nucleotides of sequence SEQ ID NO 3 or 4, or having at least 95% homology to said at least 17 consecutive nucleotides, wherein the isolated nucleic acid comprises the nucleotide t 261 in SEQ ID NO 3 or t 50 in SEQ ID NO 4 , wherein the isolated nucleic acid further comprises a radioactive, fluorescent or enzymatic label.
8. A kit according to claim 7 , further comprising a second container containing a heat resistant polymerase for PCR amplification or one or more solutions for amplification or hybridization or both.
9. A kit according to claim 8 , wherein the second container contains a heat resistant polymerase for PCR amplification.
10. A kit according to claim 9 , further comprising a third container containing one or more solutions for amplification or hybridization or both.
11. An isolated nucleic acid according to claim 1 , wherein the isolated nucleic acid comprises at least 20 consecutive nucleotides of sequence SEQ ID NO 3 or 4, or has at least 90% homology to said at least 20 consecutive nucleotides.