首页> 外国专利> SCN5A SPLICING FACTORS AND SPLICE VARIANTS FOR USE IN DIAGNOSTIC AND PROGNOSTIC METHODS

SCN5A SPLICING FACTORS AND SPLICE VARIANTS FOR USE IN DIAGNOSTIC AND PROGNOSTIC METHODS

机译:SCN5A剪接因子和剪接变体,用于诊断和预测方法

摘要

Provided herein are methods of identifying a subject at risk for arrhythmias, heart failure or sudden cardiac death. In exemplary aspects, the method comprises the step of determining a level of splicing factor hLuc7a, splicing factor RBM25 and/or PERK in a biological sample obtained from the subject, wherein an increased level, compared to a control level, indicates a risk for arrhythmia or heart failure. The invention also provides methods of diagnosing hypertrophic cardiomyopathy (HCM), or a risk therefor, in a subject. The method comprises the step of determining a level of E28D, RBM25, PRPF40A, or LUC7L3, or a combination thereof, in a biological sample obtained from the subject, wherein an increased level is indicative of the subject having HCM or a risk therefor. Diagnostic kits comprising binding agents for the markers are furthermore provided.
机译:本文提供了鉴定有心律不齐,心力衰竭或心源性猝死风险的受试者的方法。在示例性方面,该方法包括确定从受试者获得的生物样品中的剪接因子hLuc7a,剪接因子RBM25和/或PERK的水平的步骤,其中与对照水平相比,水平升高表明存在心律失常的风险。或心力衰竭。本发明还提供了在受试者中诊断肥厚型心肌病(HCM)或其风险的方法。该方法包括确定从受试者获得的生物样品中E28D,RBM25,PRPF40A或LUC7L3或其组合的水平的步骤,其中水平升高表明该受试者患有HCM或具有其风险。此外,提供了包括用于标记的结合剂的诊断试剂盒。

著录项

  • 公开/公告号US2012129179A1

    专利类型

  • 公开/公告日2012-05-24

    原文格式PDF

  • 申请/专利权人 SAMUEL DUDLEY;

    申请/专利号US201113291826

  • 发明设计人 SAMUEL DUDLEY;

    申请日2011-11-08

  • 分类号C12Q1/68;G01N33/566;

  • 国家 US

  • 入库时间 2022-08-21 17:32:56

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