人类视网膜疾病的分子遗传学
Molecular genetics of human retinal disease.
作者信息
Rattner A, Sun H, Nathans J
机构信息
Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
出版信息
Annu Rev Genet. 1999;33:89-131. doi: 10.1146/annurev.genet.33.1.89.
The past decade has witnessed extraordinary progress in retinal disease gene identification, the analysis of animal and tissue culture models of disease processes, and the integration of this information with clinical observations and with retinal biochemistry and physiology. During this period over twenty retinal disease genes were identified and for many of these genes there are now significant insights into their role in disease. This review presents an overview of the basic and clinical biology of the retina, summarizes recent progress in understanding the molecular mechanisms of inherited retinal diseases, and offers an assessment of the role that genetics will play in the next phase of research in this area.
在过去十年中，视网膜疾病基因的鉴定、疾病过程的动物和组织培养模型分析，以及将这些信息与临床观察、视网膜生物化学和生理学相结合方面都取得了非凡进展。在此期间，超过二十种视网膜疾病基因被鉴定出来，并且对于其中许多基因，目前已对它们在疾病中的作用有了重要认识。本综述概述了视网膜的基础和临床生物学，总结了在理解遗传性视网膜疾病分子机制方面的最新进展，并对遗传学在该领域下一阶段研究中将发挥的作用进行了评估。
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