遗传性白内障与晶体蛋白基因

Hereditary Cataracts and Crystallin Gene

先天性白内障严重影响着视觉的发育。白内障的产生是大量基因通过不同机制相互作用导致突变的最终结果,大多数遗传性白内障与晶体蛋白基因的突变有关,这些晶体蛋白基因对维持晶状体的透明性和稳定性起着至关重要的作用。现对与遗传性白内障相关的晶体蛋白基因定位、晶体蛋白的组成与结构、翻译后修饰和突变蛋白的功能进行综述。

Congenital cataract is one of the significant causes of visual impairment and blindness in Childhood.While cataract represents an end stage of mutations in a potentially plenty of genes acting through varied mechanisms in practice.Most hereditary cataracts have been associated with the mutations of the crystallin genes which play a important role for the maintenance of lens transparency and homeostasis.we review the related crystallin gene mapping of congenital cataract and the relationship between related crystal protein composition and structure,post-translational modification and the analysis of the mutational crystal proteins＇ function in the fowlling aticle.