临床医学进展

Vol.5 No.1 (March 2015)

扩张型心肌病与肌联蛋白靶基因突变的研究
Study of DCM and the Titin Targrt Gene Mutations

 

作者:

杜 辉 :内蒙古医科大学,内蒙古 呼和浩特

陈凤英 :内蒙古医科大学附属医院,内蒙古 呼和浩特

 

关键词:

扩张型心肌病肌联蛋白RNA结合蛋白20基因突变DCM Titin Rbm20 Gene Mutations

 

摘要:

扩张型心肌病(Dilated Cardiomyopathy, DCM)是一种严重危害人们身体健康和生活质量的疾病,其发病隐匿,进展缓慢,初期临床症状不明显,早期诊断较为困难!患者一旦出现明显的临床症状,病情往往已进入不可逆阶段。因此,寻找出一种有效的早期诊断方法,以及尽早建立起一级预防机制显得极其重要!通过研究和探讨与扩张型心肌病相关的肌联蛋白(titin)及RNA结合蛋白20 (RBM20),探讨其突变序列位点,早期干预,能够为扩张型心肌病患者的早期诊断提供重要的依据,具有广阔的应用前景。

DCM (Dilated Cardiomyopathy, DCM) is a kind of disease with the characteristics of onset hidden and slow progress, which plays serious damage to the people’s health and life quality. The early clinical symptom is not obvious, so early diagnosis is very difficult! Once somebody gets the obvious clinical symptoms, the disease always has entered the stage of irreversible. As a result, it is extremely important to look for a kind of effective method of early diagnosis to establish primary prevention mechanism quickly. Through the study and exploration of the DCM related titin and Rbm20, we can discuss the locus mutation sequence, do intervention early, to provide important basis in the early diagnosis of patients who have got DCM, has broad application prospects.

文章引用:

杜 辉 , 陈凤英 (2015) 扩张型心肌病与肌联蛋白靶基因突变的研究。 临床医学进展, 5, 50-57. doi: 10.12677/ACM.2015.51010

 

参考文献

分享
Top