JP2008517613 真性赤血球増加症に関与するＪＡＫ２の変異の識別方法

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Japan

Application Number 2007538421

Application Date 26.10.2005

Publication Number 2008517613

Publication Date 29.05.2008

Grant Number 5090171

Grant Date 21.09.2012

Publication Kind B2

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Applicants アシスタンス　ピュブリック－オピト　ドゥ　パリ
アンスティテュ　ナショナル　ドゥ　ラ　サンテ　エ　ドゥ　ラ　ルシェルシュ　メディカル（インセルム）
アンスティテュ　ギュスターブ－ルシ
ユニヴェルシテ　ドゥ　ヴェルサイユ－サン　クァンタン　アン　イヴェリーヌ
ユニヴェルシテ　パリ－シュド

Inventors ヴァンシャンケ、ウィリアム
ウーゴ、ヴァレリー
ジャム、クローエ
レ　クェディック、ジャン－ピエール
カザデバル、ニコル

Agents 太田　恵一

Priority Data 0411480 27.10.2004 FR

Title

(JA) 真性赤血球増加症に関与するＪＡＫ２の変異の識別方法

Abstract

(JA)

本発明は、真性赤血球増加症の原因となっている、ＪＡＫ２チロシンキナーゼタンパク質のＶ６１７Ｆ変異体に関するものである。また、本発明は、赤血球増加症と血小板増加症を骨髄増殖症候群に関連付けることを可能にする、赤血球増加症および血小板増加症の一次診断方法、すなわち、赤血球増加症と血小板増加症を新たな疾病群に再分類することを可能にする、骨髄増殖症候群におけるＪＡＫ２Ｖ６１７Ｆ変異体の検出にも関するものであり、そして、特異的阻害剤とｓｉＲＮＡの識別にも関するものである。

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

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
027	New breeds of vertebrates

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

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1. JP2008517613 - 真性赤血球増加症に関与するＪＡＫ２の変異の識別方法

A	HUMAN NECESSITIES
61	MEDICAL OR VETERINARY SCIENCE; HYGIENE
P	SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
7	Drugs for disorders of the blood or the extracellular fluid

C	CHEMISTRY; METALLURGY
07	ORGANIC CHEMISTRY
K	PEPTIDES
14	Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof

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
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)