离子通道与人类遗传病

细胞膜离子通道结构和功能正常是细胞进行生理活动的基础，对离子通道功能具有决定性意义的特定位点的突变导致其开放、关闭或激活、失活功能异常，引起组织机能紊乱，形成各种遗传性疾病。本文从水通道蛋白，钙通道，钠通道，钾通道等多种通道蛋白引起的遗传病的现象以及机理做较深入的阐述。

Ion channels and human genetic diseases

The normal structure and well functioning of the ion channel of cell membrane are the bases of physiological activities, The mutation of any special situs which is essential for the ion channel would result in the abnormal functioning of its opening and closing, activatation and inactivation, causing disorder of the tissue and many hereditary diseases. In this thesis, phenomena and mechanism of genetic diseases caused by many channel proteins, such as aquatic, calcium, sodium channels, potassium channel proteins, are discussed elaborately.