CN101072870 Identification of a JAK2 mutation in polycythemia vera

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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

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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。

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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)

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68	involving nucleic acids

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50	Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
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9	Enzymes, e.g. ligases (6.); Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating, or purifying enzymes
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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. CN101072870 - Identification of a JAK2 mutation in polycythemia vera

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