US20090162849 Identification of a JAK2 mutation in polycythemia vera

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United States of America

Application Number 12234616

Application Date 19.09.2008

Publication Number 20090162849

Publication Date 25.06.2009

Grant Number 08637235

Grant Date 28.01.2014

Publication Kind B2

IPC

Applicants Vainchenker William
Institut Gustave-Roussy
Ugo Valérie
Institut National de la Sante et de la Recherche Scientifique (CNRS)
James Chloé
Assistance Publique—Hopitaux de Paris
Le Couedic Jean-Pierre
Universite de Versailles—St Quentin en Yvelines
Casadevall Nicole
Universite Paris—SUD

Inventors Vainchenker William
Ugo Valérie
James Chloé
Le Couedic Jean-Pierre
Casadevall Nicole

Agents Foley & Lardner LLP

Priority Data 0411480 27.10.2004 FR

Title

(EN) Identification of a JAK2 mutation in polycythemia vera

Abstract

(EN)

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.

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q	MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1	Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68	involving nucleic acids

C	CHEMISTRY; METALLURGY
07	ORGANIC CHEMISTRY
H	SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
21	Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
04	with deoxyribosyl as saccharide radical

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
P	FERMENTATION OR ENZYME-USING PROCESSES TO SYNTHESISE A DESIRED CHEMICAL COMPOUND OR COMPOSITION OR TO SEPARATE OPTICAL ISOMERS FROM A RACEMIC MIXTURE
19	Preparation of compounds containing saccharide radicals
26	Preparation of nitrogen-containing carbohydrates
28	N-glycosides
30	Nucleotides
34	Polynucleotides, e.g. nucleic acids, oligoribonucleotides

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q	MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1	Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68	involving nucleic acids

C	CHEMISTRY; METALLURGY
07	ORGANIC CHEMISTRY
H	SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
21	Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
04	with deoxyribosyl as saccharide radical

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1. US20090162849 - Identification of a JAK2 mutation in polycythemia vera