US20120066776 Identification of a JAK2 mutation involved in vaquez polyglobulia

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United States of America

Application Number 13213841

Application Date 19.08.2011

Publication Number 20120066776

Publication Date 15.03.2012

Grant Number 08466338

Grant Date 18.06.2013

Publication Kind B2

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

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

Agents Foley & Lardner LLP

Priority Data 0411480 27.10.2004 FR

Title

(EN) Identification of a JAK2 mutation involved in vaquez polyglobulia

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.

A	HUMAN NECESSITIES
01	AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
K	ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
67	Rearing or breeding animals, not otherwise provided for; New breeds of animals

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

A	HUMAN NECESSITIES
01	AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
K	ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
67	Rearing or breeding animals, not otherwise provided for; New breeds of animals

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

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; Proenzymes; Compositions thereof
10	Transferases (2.)
12	transferring phosphorus containing groups, e.g. kinases (2.7)
1205	Phosphotransferases with an alcohol group as acceptor (2.7.1), e.g. protein kinases

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1. US20120066776 - Identification of a JAK2 mutation involved in vaquez polyglobulia

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
2600	Oligonucleotides characterized by their use
156	Polymorphic or mutational markers

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 G01N1/00 - G01N31/00
48	Biological material, e.g. blood, urine
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
57407	Specifically defined cancers
57426	leukemia

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 G01N1/00 - G01N31/00
48	Biological material, e.g. blood, urine
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
57484	involving compounds serving as markers for tumor, cancer, neoplasia, e.g. cellular determinants, receptors, heat shock/stress proteins, A-protein, oligosaccharides, metabolites
57496	involving intracellular compounds

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)

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 G01N1/00 - G01N31/00
48	Biological material, e.g. blood, urine
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
57407	Specifically defined cancers
57426	leukemia