| 常染色体显性遗传视网膜色素变性致病基因的研究进展 |
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| 引用本文： | 邵杰,黄波,滕云. 常染色体显性遗传视网膜色素变性致病基因的研究进展[J]. 眼科新进展, 2002, 22(4): 286-288 |
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| 作者姓名： | 邵杰 黄波 滕云 |
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| 作者单位： | 1. 430030,武汉市,华中科技大学同济医学院98级7年制
2. 华中科技大学同济医学院医学遗传研究室 |
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| 摘 要： | 视网膜色素变性（retinitis pigmentosa,RP)是常见的遗传性视网膜变性疾病，它具有高度的遗传异质性，有不同的遗传方式和临床表型，目前已发现常染色体显性遗传型视网膜色素变性（autosomal dominant retinitis pigmentosa,ADRP)的12种基因，其中已被克隆的有RHO，RDS，ROM1，RP1，NRL及CRX，未被克隆的有RP9，RP10，RP11，RP13，RP17及RP18，本文主要介绍与ADRP相关的几个基因的最新研究进展。
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| 关 键 词： | 视网膜色素变性 研究进展 常染色体显性遗传 致病基因 |
| 文章编号： | 1003-5141(2002)04-0286-03 |
| 修稿时间： | 2001-09-20 |
Progress in the research of disease genes in autosomal dominant retinitis pigmentosa |
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| SHAO Jie,HUANG Bo,TENG Yun From the Tongji Medical College of Huazhong University of Science and Technology,Wuhan ,Hubei Province,China. Progress in the research of disease genes in autosomal dominant retinitis pigmentosa[J]. Recent Advances in Ophthalmology, 2002, 22(4): 286-288 |
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| Authors: | SHAO Jie HUANG Bo TENG Yun From the Tongji Medical College of Huazhong University of Science Technology Wuhan Hubei Province China |
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| Affiliation: | SHAO Jie,HUANG Bo,TENG Yun From the Tongji Medical College of Huazhong University of Science and Technology,Wuhan 430030,Hubei Province,China |
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| Abstract: | Retinitis pigmentosa is a common genetic form of retinal degeneration. It is very heterogeneous, both genetically and phenotypically. At present 12 genes causing autosomal dominant retinitis pigmentosa have been identified. In these genes, RHO, RDS, ROM1, RP1, NRL and CRX have been cloned, while RP9, RP10, RP11, RP13, RP17 and RP18 have not yet been cloned. In this article we mainly introduce the newest progress of the research in several disease genes relevant to ADRP. |
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| Keywords: | retinitis pigmentosa autosomal dominant disease genes |
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