遗传性白内障动物模型研究进展.pdfVIP

HEREDITAS (Beijing) 2007 2 , 29(2): 137―144 ISSN 0253-9772 综述 DOI: 10.1360/yc-007-0137 1,2 2 1 杨秀兰 , 苏玉虹 , 李文龙 1. , 100071; 2. , 121000 : 白内障是严重影响公众健康的重大疾病。人群中, 大部分遗传性白内障是外显率较高的常染色体显性遗 传, 但也有 X 连锁和常染色体隐性遗传存在。随着分子生物学技术的发展, 出现了许多白内障遗传动物模型, 这些模型有助于揭示白内障的发病机制, 为晶状体的发育和生理学研究提供新的见解, 还有助于进一步了解遗 传、环境和营养等因素对晶状体的作用方式, 并为白内障遗传病的诊断和治疗提供依据。文章综述了遗传性白 内障动物模型的相关基因、突变形式及其研究进展。 : 白内障; 遗传; 动物模型 Progress in animal models for inherited cataract 1, 2 2 1 YANG Xiu-Lan , SU Yu-Hong , LI Wen-Long 1. Laboratory Animal Center , Academy of Military Medical Science, Beijing 100071, China; 2. Jinzhou Medical College, Liaoning Key Laboratory of Molecular and Cellular Biology and New Drug Development, Jinzhou 121000, China Abstract: Cataract is a serious public health problem. It is usually inherited as an autosomal dominant trait, although autosomal recessive and X-linked inheritance are seen less commonly. With the development of molecular biology tech- niques, a large number of inherited cataract models are produced, which will reveal the pathogenesis of cataracts and pro- vide a new view for the development and physiology of the lens. In addition, these models also facilitate our understanding of the manner of inheritance, the effect of the environment and nutrition on the lens and provide clues for the diagnosis and treatment of cataracts. Here we presented the relative genes of the animal models for inherited cataract, mutation forms and its progress. Keywords: cataracts; inherited; animal models , 4,500 , [1], (ca