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1. CN101072870 - Identification of a JAK2 mutation in polycythemia vera

Office
China
Application Number 200580042022.3
Application Date 26.10.2005
Publication Number 101072870
Publication Date 14.11.2007
Grant Number 101072870
Grant Date 30.01.2013
Publication Kind B
IPC
C12N 9/12
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
9Enzymes, e.g. ligases (6.); Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating, or purifying enzymes
10Transferases (2.)
12transferring phosphorus containing groups, e.g. kinases (2.7)
C12Q 1/68
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING 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
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
G01N 33/53
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33Investigating or analysing materials by specific methods not covered by groups G01N1/-G01N31/131
48Biological material, e.g. blood, urine; Haemocytometers
50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
53Immunoassay; Biospecific binding assay; Materials therefor
CPC
C12N 9/1205
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
9Enzymes; Proenzymes; Compositions thereof
10Transferases (2.)
12transferring phosphorus containing groups, e.g. kinases (2.7)
1205Phosphotransferases with an alcohol group as acceptor (2.7.1), e.g. protein kinases
G01N 33/57426
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
48Biological material, e.g. blood, urine
50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
53Immunoassay; Biospecific binding assay; Materials therefor
574for cancer
57407Specifically defined cancers
57426leukemia
G01N 33/57496
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
48Biological material, e.g. blood, urine
50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
53Immunoassay; Biospecific binding assay; Materials therefor
574for cancer
57484involving compounds serving as markers for tumor, cancer, neoplasia, e.g. cellular determinants, receptors, heat shock/stress proteins, A-protein, oligosaccharides, metabolites
57496involving intracellular compounds
G01N 2333/91215
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
2333Assays involving biological materials from specific organisms or of a specific nature
90Enzymes; Proenzymes
91Transferases (2.)
912transferring phosphorus containing groups, e.g. kinases (2.7)
91205Phosphotransferases in general
9121with an alcohol group as acceptor (2.7.1), e.g. general tyrosine, serine or threonine kinases
91215with a definite EC number (2.7.1.-)
G01N 2500/04
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
2500Screening for compounds of potential therapeutic value
04Screening 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)
C12Q 2600/156
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600Oligonucleotides characterized by their use
156Polymorphic or mutational markers
Applicants Assist Publ Hopitaux de Paris
巴黎国立医院(AH-HP)
国家健康与医学研究院(INSERM)
古斯塔夫鲁西研究所(IGR)
凡尔赛大学
巴黎十一大
Inventors Vainchenker William
威廉·瓦因切克尔
Ugo Valerie
瓦莱丽·于戈
James Chloe
克洛艾·詹姆斯
Le Couedic Jean Pierre
让-皮埃尔·勒·库埃迪克
Casadevall Nicole
妮科尔·卡萨德瓦尔
Agents liuxiao dong gujin wei
北京集佳知识产权代理有限公司 11227
北京集佳知识产权代理有限公司 11227
Priority Data 0411480 27.10.2004 FR
Title
(EN) Identification of a JAK2 mutation in polycythemia vera
(ZH) 对真性红细胞增多症中JAK2突变的鉴定
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.
(ZH)

本发明涉及蛋白质酪氨酸激酶JAK2的变体V617F,所述变体是造成真性红细胞增多症的原因。本发明还涉及用于初步诊断红细胞增多症和血小板增多症的方法,由此也同样涉及骨髓增生性综合征或者对所述骨髓增生性综合征中的变体JAK2 V617F的检测,从而能够将他们在新的疾病分类学组中重新分类,并且本发明涉及对特异性抑制剂和siRNA的鉴定。