首页> 外国专利> METHOD AND APPARATUS FOR DETECTION OF THE HEALTHY CARRIER STATE FOR THE 35DELG MUTATION IN THE GJB2 GENE AS RISK FACTOR FOR HEARING LOSS

METHOD AND APPARATUS FOR DETECTION OF THE HEALTHY CARRIER STATE FOR THE 35DELG MUTATION IN THE GJB2 GENE AS RISK FACTOR FOR HEARING LOSS

机译:检测GJB2基因35DEL突变的健康携带者状态的方法和装置,作为听力损失的危险因素

摘要

A method is described for detection of the healthy carrier state for the genetic mutation 35delG in the GJB2 gene based on the measurement of epidermal thickness. Since this mutation correlates with the occurrence of genetically based hearing loss, the screening of a general normal hearing population for a potential genetic mutation, performed by non-invasive, rapid and reliable measurement of epidermal thickness, represents an important tool for genetic screening and assessment for a potential associated deafness risk. In addition to the method, the invention describes the apparatus to perform said method.
机译:描述了一种基于表皮厚度的测量来检测GJB2基因中35delG基因突变的健康携带者状态的方法。由于这种突变与遗传性听力损失的发生有关,因此通过无创,快速和可靠地测量表皮厚度对普通正常听力人群进行潜在遗传突变的筛查是进行遗传筛查和评估的重要工具潜在的相关性耳聋风险。除了该方法之外,本发明还描述了执行所述方法的设备。

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