Method and means for detecting and treating disorders in the blood
coagulation cascade
    7.
    发明授权
    Method and means for detecting and treating disorders in the blood coagulation cascade 失效
    检测和治疗血液凝固级联障碍的方法和手段

    公开(公告)号:US6083905A

    公开(公告)日:2000-07-04

    申请号:US722240

    申请日:1997-01-22

    Abstract: This invention relates to the diagnosis of congenital defects in the anticoagulant protein C system. Methods that are disclosed are based on the detection of mutations at the cleavage sites of coagulation factors that are under control of activated protein C (APC). Diagnostic tests include analysis of the APC-cleavage sites of factor V and factor VIII, by using specific primers to amplify selectively from RNA, cDNA derived from RNA or chromosomal DNA, parts of factor V and factor VIII that contain cleavage sites for APC. Methods that monitor the presence of mutations at the cleavage sites for APC and their utility in the diagnosis of thrombo-embolic disease are disclosed. The invention further discloses methods for correcting the defects detected according to the invention, as well as novel therapeutic agents which can be used in the treatment of bleeding disorders, which agents are based on the "defective" Factor V and Factor VIII proteins leading to the thrombotic disorders described hereinabove.

    Abstract translation: PCT No.PCT / NL95 / 00149 Sec。 371日期1997年1月22日 102(e)日期1997年1月22日PCT 1995年4月21日PCT PCT。 第WO95 / 29259号公报 日期1995年11月2日本发明涉及抗凝蛋白C系统中先天性缺陷的诊断。 所公开的方法基于在活化蛋白C(APC)控制下的凝血因子的切割位点处的突变的检测。 诊断测试包括通过使用特异性引物从RNA,RNA或染色体DNA衍生的cDNA,包含APC切割位点的因子V和因子VIII的部分选择性地扩增,分析因子V和因子VIII的APC-切割位点。 公开了监测APC切割位点突变存在的方法及其在血栓栓塞性疾病诊断中的应用。 本发明还公开了用于校正根据本发明检测到的缺陷的方法,以及可用于治疗出血性疾病的新型治疗剂,所述治疗剂基于导致其的“缺陷”因子V和因子VIII蛋白 上文描述的血栓形成障碍。

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