| 常染色体显性先天性白内障的基因定位与克隆 |
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| 引用本文： | 李妮,刘谊. 常染色体显性先天性白内障的基因定位与克隆[J]. 眼科研究, 2005, 23(1): 100-103 |
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| 作者姓名： | 李妮 刘谊 |
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| 作者单位： | 610041,成都,四川大学华西医院眼科 |
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| 摘 要： | 先天性遗传性白内障是常见的儿童致盲眼病,其中以常染色体显性遗传最为多见。常染色体显性白内障存在复杂的遗传异质性,使得本病的遗传缺陷和发病机制尚未完全明确。就常染色体显性先天性白内障的基因定位与克隆研究现状作一综述。
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| 关 键 词： | 先天性白内障 基因位点 突变 |
| 文章编号： | 1003-0808(2005)01-0100-04 |
Identification of genes causing autosomal-dominant congenital cataract |
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| Li Ni. Identification of genes causing autosomal-dominant congenital cataract[J]. Chinese Ophthalmic Research, 2005, 23(1): 100-103 |
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| Authors: | Li Ni |
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| Affiliation: | Li Ni.Department of Ophthalmology,West China Hospital,Medical School of Sichuan University,Chengdu 610041,China |
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| Abstract: | Congenital cataract is a common abnormality of eye that frequently causes blindness in infants.Autosomal dominant congenital cataract appears to be the most familial form.There is clearly considerable genetic heterogeneity in autosomal dominant congenital cataract.The identification of genes causing autosomal dominant congenital cataract will improve our understanding for cataract mechanisms underlying cataractogenesis in childhood. |
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| Keywords: | congenital cataract gene locus mutation |
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