US20150051263 Identification of a JAK2 mutation in polycythemia vera

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United States of America

Application Number 14164880

Application Date 27.01.2014

Publication Number 20150051263

Publication Date 04.09.2014

Grant Number 10364430

Grant Date 30.07.2019

Publication Kind B2

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Applicants Institut Gustave-Roussy
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE SCIENTIFIQUE MEDICALE (INSERM)
ASSISTANCE PUBLIQUE-HOPITAUX DE PARIS
UNIVERSITE DE VERSAILLES—ST QUENTIN EN YVELINES
UNIVERSITE PARIS-SUD

Inventors William Vainchenker
Valerie Ugo
Chloe James
Jean-Pierre Le Couedic
Nicole Casadevall

Agents Potomac Law Group, PLLC

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
N	MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
9	Enzymes, e.g. ligases (6.); Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating, or purifying enzymes
10	Transferases (2.)
12	transferring phosphorus containing groups, e.g. kinases (2.7)

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
N	MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
15	Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
09	Recombinant DNA-technology
11	DNA or RNA fragments; Modified forms thereof
113	Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides

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
6813	Hybridisation assays

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
6876	Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883	for diseases caused by alterations of genetic material

G	PHYSICS
01	MEASURING; TESTING
N	INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33	Investigating or analysing materials by specific methods not covered by groups G01N1/-G01N31/131
48	Biological material, e.g. blood, urine; Haemocytometers
50	Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
53	Immunoassay; Biospecific binding assay; Materials therefor
574	for cancer

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1. US20150051263 - Identification of a JAK2 mutation in polycythemia vera

G	PHYSICS
01	MEASURING; TESTING
N	INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
2500	Screening for compounds of potential therapeutic value
04	Screening involving studying the effect of compounds C directly on molecule A (e.g. C are potential ligands for a receptor A, or potential substrates for an enzyme A)