| 原发性先天性青光眼的分子遗传学研究新进展 |
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| 引用本文： | 李茅,陈晓明,夏庆杰. 原发性先天性青光眼的分子遗传学研究新进展[J]. 眼科新进展, 2003, 23(1): 67-70 |
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| 作者姓名： | 李茅 陈晓明 夏庆杰 |
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| 作者单位： | 610041,四川成都,四川大学华西医院眼科 |
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| 摘 要： | 原发性先天性青光眼(primary congenitalglauco—ma，PCG)是一种遗传性致盲眼病。其防治关键在于揭示PCG致病基因，实现基因诊断和治疗。近年来的分子遗传学研究确定CYPlBl基因为PCG致病基因之一。本文对CYPlBl基因突变及其遗传特点作一综述，旨在为进一步研究提供参考。
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| 关 键 词： | 原发性先天性青光眼 分子遗传学 PCG 致病基因 基因诊断 治疗 综述 |
| 文章编号： | 1003-5141(2003)01-0067-04 |
| 修稿时间： | 2002-11-12 |
Recent advances in molecular genetics of primary congenital glaucoma |
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| LI Mao,CHEN Xiao Ming,XIA Qing Jie. Recent advances in molecular genetics of primary congenital glaucoma[J]. Recent Advances in Ophthalmology, 2003, 23(1): 67-70 |
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| Authors: | LI Mao CHEN Xiao Ming XIA Qing Jie |
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| Abstract: | Primary congenital glaucoma (PCG) is a blind leading hereditary disease .To find out the PCG causative genes so that the gene diagnosis and therapy can be carried out is the key point in its prevention and treatment. Recently, CYP1B1 gene has been identified to be one of the PCG causative genes in recent researches. The CYP1B1 gene mutations and its hereditary features are reviewed as a reference for further researches. |
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| Keywords: | primary congenital glaucoma molecular genetics CYP1B1 gene gene mutation |
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