首页> 外国专利> METHOD FOR DETECTING GENE VARIATION RELATED TO THROMBOTIC DISEASE BY ANALYZING VON WILLEBRAND FACTOR NICKING ENZYME GENE

METHOD FOR DETECTING GENE VARIATION RELATED TO THROMBOTIC DISEASE BY ANALYZING VON WILLEBRAND FACTOR NICKING ENZYME GENE

机译:冯·威勒伯兰德因子克隆酶基因检测与染色体疾病相关的基因变异的方法

摘要

PPROBLEM TO BE SOLVED: To provide a means attaining early diagnosis and judgement of a morbidity hazard rate of thrombotic disease [such as thrombotic thrombocytopenic purpura (TTP), coronary arterial disease (CAD), and cerebral appoplexy]. PSOLUTION: The method for detecting gene variation having possibility of causing the thrombotic disease [such as TTP, hemolytic uremic syndrome (HUS), CAD, and the cerebral appoplexy] comprises detecting single nucleotide mutation of a von Willebrand factor nicking enzyme gene expressed by 3066539A (expressed by a position in a genomic base sequence of the gene described in GenBank accession number NT_035014.3 and a base after the mutation) and 1193T; 1460G; 1786G; 1992A; 2160A; 2296G; 2724C; 3050A; 3152T (expressed by positions in a cDNA base sequence of the gene described in GenBank accession number NM_139025 and bases after the mutation). A method for testing the morbidity hazard rate of the disease utilizes the method for detecting the gene variation. Further, a gene having the variation, a polynucleotide used in the method, and a reagent kit used in the same are provided. PCOPYRIGHT: (C)2010,JPO&INPIT
机译:

要解决的问题:提供一种手段,可以早期诊断和判断血栓性疾病(例如血栓性血小板减少性紫癜(TTP),冠状动脉疾病(CAD)和脑瘫)的发病率。

解决方案:用于检测可能导致血栓形成疾病(例如TTP,溶血性尿毒症候群(HUS),CAD和脑部疾病)的基因变异的方法包括检测von Willebrand因子切口酶基因的单核苷酸突变由3066539A(由GenBank登录号NT_035014.3中描述的基因的基因组碱基序列中的位置和突变后的碱基表示)和1193T表达; 1460G; 1786G; 1992A; 2160A; 2296G; 2724C; 3050A; 3152T(由GenBank登录号NM_139025中描述的基因的cDNA碱基序列中的位置和突变后的碱基表示)。一种检测疾病的发病率的方法利用了检测基因变异的方法。此外,提供了具有该变异的基因,该方法中使用的多核苷酸以及该方法中使用的试剂盒。

版权:(C)2010,日本特许厅&INPIT

著录项

相似文献

  • 专利
  • 外文文献
  • 中文文献
获取专利

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号