JP2009278982 METHOD FOR IDENTIFYING JAK2 MUTATION INVOLVED IN POLYCYTHEMIA VERA

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Application Number 2009155912

Application Date 30.06.2009

Publication Number 2009278982

Publication Date 03.12.2009

Grant Number 5290884

Grant Date 14.06.2013

Publication Kind B2

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Applicants ASSISTANCE PUBLIQUE-HOPITAUX DE PARIS
アシスタンス　ピュブリック－オピト　ドゥ　パリ
INST NATIONAL DE LA SANTE & DE LA RECHERCHE MEDICALE (INSERM)
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）
INST GUSTAVE-ROUSSY
アンスティテュ　ギュスターブ－ルシ
UNIV DE VERSAILLES-SAINT QUENTIN EN YVELINES
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
UNIV PARIS-SUD
ユニヴェルシテ　パリ－シュド

Inventors VAINCHENKER WILLIAM
ヴァンシャンケ、ウィリアム
UGO VALERIE
ウーゴ、ヴァレリー
JAMES CHLOE
ジャム、クローエ
LE COUEDIC JEAN-PIERRE
レ　クェディック、ジャン－ピエール
CASADEVALL NICOLE
カザデバル、ニコル

Agents 太田　恵一

Priority Data 0411480 27.10.2004 FR

Title

(EN) METHOD FOR IDENTIFYING JAK2 MUTATION INVOLVED IN POLYCYTHEMIA VERA

(JA) 真性赤血球増加症に関与するＪＡＫ２の変異の識別方法

Abstract

(EN)

PROBLEM TO BE SOLVED: To provide a method for determining the presence/absence of a G1849T mutant of a JAK2 gene in a specimen taken from a polycythemia vera patient or a patient having the possibility of developing polycythemia vera or any other myeloproliferative syndromes, especially polycythemia, hyperleukocytosis, thrombocytosis and myelofibrosis, and to provide a method for treating any of these diseases.

SOLUTION: A transgenic animal characterized by reproducing polycythemia vera is provided. A method for detecting the presence/absence of a G1849T mutant of JAK2 gene in a nucleic acid specimen taken from a relevant patient is also provided. Besides, siRNA having the ability to reduce the expression of a JAK2 V617F mutant by 50% or more or 95% or more is provided.

(JA)

【課題】真性赤血球増加症患者または真性赤血球増加症もしくはその他のあらゆる骨髄増殖症候群、とりわけ赤血球増加症、白血球増加症、血小板増加症および骨髄線維症を発症する恐れのある患者のサンプルにおいて、ＪＡＫ２遺伝子のＧ１８４９Ｔ変異体の有無を判定するための方法および治療方法を提供する。
【解決手段】真性赤血球増加症を再現することを特徴とするトランスジェニック動物。患者から得た核酸サンプルにおいてＪＡＫ２遺伝子のＧ１８４９Ｔ変異体の有無を検出する方法。ＪＡＫ２Ｖ６１７Ｆ変異体の発現を５０％以上あるいは９５％以上減少させる能力を有するｓｉＲＮＡ。
【選択図】なし

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

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

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

A	HUMAN NECESSITIES
61	MEDICAL OR VETERINARY SCIENCE; HYGIENE
K	PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
45	Medicinal preparations containing active ingredients not provided for in groups A61K31/-A61K41/132

A	HUMAN NECESSITIES
61	MEDICAL OR VETERINARY SCIENCE; HYGIENE
K	PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
48	Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy

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1. JP2009278982 - METHOD FOR IDENTIFYING JAK2 MUTATION INVOLVED IN POLYCYTHEMIA VERA

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

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

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
2333	Assays involving biological materials from specific organisms or of a specific nature
90	Enzymes; Proenzymes
91	Transferases (2.)
912	transferring phosphorus containing groups, e.g. kinases (2.7)
91205	Phosphotransferases in general
9121	with an alcohol group as acceptor (2.7.1), e.g. general tyrosine, serine or threonine kinases
91215	with a definite EC number (2.7.1.-)

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
2333	Assays involving biological materials from specific organisms or of a specific nature
90	Enzymes; Proenzymes
91	Transferases (2.)
912	transferring phosphorus containing groups, e.g. kinases (2.7)
91205	Phosphotransferases in general
9121	with an alcohol group as acceptor (2.7.1), e.g. general tyrosine, serine or threonine kinases
91215	with a definite EC number (2.7.1.-)

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)