[1]张丁丁,李秀兰.X-连锁遗传相关的先天性白内障及基因研究进展[J].眼科新进展,2016,36(5):481-484.[doi:10.13389/j.cnki.rao.2016.0129]
 ZHANG Ding-Ding,LI Xiu-Lan.Research advances in the Gene Study of X-linked congenital cataract[J].Recent Advances in Ophthalmology,2016,36(5):481-484.[doi:10.13389/j.cnki.rao.2016.0129]
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X-连锁遗传相关的先天性白内障及基因研究进展
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《眼科新进展》[ISSN:1003-5141/CN:41-1105/R]

卷:
36卷
期数:
2016年5期
页码:
481-484
栏目:
文献综述
出版日期:
2016-05-05

文章信息/Info

Title:
Research advances in the Gene Study of X-linked congenital cataract
作者:
张丁丁李秀兰
610072 四川省成都市,四川省人民医院健康管理中心(张丁丁);563000 贵州省遵义市,遵义医学院免疫教研室(李秀兰)
Author(s):
ZHANG Ding-Ding LI Xiu-Lan
Department of Health Management , Sichuan Provincial People ’ s Hospital ( ZHAWG Ding-Ding ) , Chengdu 610072 , Sichuan Province . China ; Department of Immunology, Zunyi Medical University ( LI Xiu-Lan ) , Zunyi 563000 , Guizhou Province . China
关键词:
先天性白内障X-连锁遗传基因
Keywords:
congenital cataract X-Iinked inheritance gene
DOI:
10.13389/j.cnki.rao.2016.0129
文献标志码:
A
摘要:
先天性白内障是儿童的常见致盲原因之一,发病机制尚待明确。遗传因素在先天性白内障发病中起重要作用。其遗传模式主要为常染色体显性遗传、常染色隐性遗传和X-连锁遗传等。X-连锁遗传的先天性白内障主要见于某些多系统综合征的眼部晶状体病变,虽较少见,却严重影响患者生存质量。现就X-连锁遗传相关的先天性白内障及其相关基因作一综述。
Abstract:
Congerutal cataract is a common cause of blindness in children,its pathogenesis remains unclear. Genetic factor plays an important role in the pathogenesis of congenital cataract. Genetic models are autosomal donunant. autosomal recessive. X-linked inheritance and so on. X-Iinked inheritance syndromes present with congenital cataract as one of the features. Although it happens relatively rarely ,it affects the quality of life in patients seriously. This article reviews genes related to X-Iinked genes and loci causing syndromic congenital cataract.

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备注/Memo

备注/Memo:
国家自然科学基金资助(编号:81271049)
更新日期/Last Update: 2016-05-04