MXMX/a/2007/005174 IDENTIFICATION OF A JAK2 MUTATION IN POLYCYTHEMIA VERA

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Application Number MX/a/2007/005174

Application Date 27.04.2007

Publication Number MX/a/2007/005174

Publication Date 15.02.2008

Publication Kind A

IPC

Applicants INSTITUT GUSTAVE ROUSSY
ASSISTANCE PUBLIQUE-HOPITAUX DE PARIS
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)
UNIVERSITE DE VERSAILLES-ST QUENTIN EN YVELINES.*
UNIVERSITE PARIS-SUD.*

Inventors VAINCHENKER, William
UGO, Valérie
JAMES, Chloé
LE COUEDIC, Jean-Pierre
CASADEVALL, Nicole

Agents HERIBERTO RAUL LOPEZ PADILLA.*

Priority Data 0411480 27.10.2004 FR

Title

(EN) IDENTIFICATION OF A JAK2 MUTATION IN POLYCYTHEMIA VERA

(ES) IDENTIFICACION DE UNA MUTACION DE JAK2 EN POLICITEMIA VERA

Abstract

(EN) The invention relates to variant V617F of protein tyrosine kinase JAK2, said variant being responsible for Polycythemia vera. The invention also relates to a method for the preliminary diagnosis of erythrocytosis and thrombocytosis, thereby enabling same to be related to myeloproliferative syndromes or the detection of variant JAK2 V617F in said myeloproliferative syndromes, such that they can be reclassified in a new nosological group, and to the identification of specific inhibitors and siRNA.

(ES) La invención se relaciona con una variante V617F de la proteína tirosina cinasa JAK2, dicha variante siendo responsable de la policitemia vera;la invención también se relaciona con un método para el diagnóstico preliminar de eritrocitosis y trombocitosis, habilitando aésta ser relacionada con síndromes mieloproliferativos o la detección de la variante JAK2 V617F en dichos síndromes mieloproliferativos, tal que pueden reclasificarse en un nuevo grupo nosológico, y a la identificación de inhibidores específicos y ARNsi.

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
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

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

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
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

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1. MXMX/a/2007/005174 - IDENTIFICATION OF A JAK2 MUTATION IN POLYCYTHEMIA VERA