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先天性白内障在相关基因方面的进展。

Advancement of congenital cataract in the responsible gene.

作者信息

Peng Li, Xie Qing

机构信息

Department of Ophthalmology, the Affiliated Haikou Hospital, Xiangya Medical School, Central South Univerdity/HaiKou Municipal Hospital, Haikou 570000, Hainan Province, China.

出版信息

Int J Ophthalmol. 2010;3(3):277-80. doi: 10.3980/j.issn.2222-3959.2010.03.23. Epub 2010 Sep 18.

DOI:10.3980/j.issn.2222-3959.2010.03.23
PMID:22553572
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3340630/
Abstract

Congenital cataract is the leading cause for children's blindness in most countries. Approximately one third of all the causes of Congenital cataract are familial and autosomal dominant blindness infants. The etiology of congen ital cataract is heterogenous. With the development of molecular biology techniques, researches on the mechanism of congenital cataract have made great progress. This review focused on the molecular mechanism of congenital cataract.

摘要

在大多数国家，先天性白内障是导致儿童失明的主要原因。所有先天性白内障病因中，约三分之一是家族性常染色体显性遗传性失明婴儿。先天性白内障的病因具有异质性。随着分子生物学技术的发展，关于先天性白内障发病机制的研究取得了很大进展。本文综述聚焦于先天性白内障的分子机制。

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本文引用的文献

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EPHA2 is associated with age-related cortical cataract in mice and humans.EPHA2与小鼠和人类的年龄相关性皮质性白内障有关。
PLoS Genet. 2009 Jul;5(7):e1000584. doi: 10.1371/journal.pgen.1000584. Epub 2009 Jul 31.
2
Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.对一个巴索托家族先天性白内障的突变分析在CRYBB2中鉴定出一个新的错义等位基因。
Mol Vis. 2009 Jul 30;15:1470-5.
3
A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family.在中国一个家族中，与常染色体显性先天性核性白内障相关的CRYAB基因新突变。
Mol Vis. 2009 Jul 10;15:1359-65.
4
An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.一种导致遗传性白内障-小角膜的αA-晶状体蛋白基因突变，即Arg12Cys，表现出改变的热休克反应。
Mol Vis. 2009 Jun 4;15:1127-38.
5
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family.在一个沙特家庭中鉴定出一种与常染色体隐性遗传性青少年白内障相关的新型CRYAB突变。
Mol Vis. 2009 May 15;15:980-4.
6
Clinical and genetic features of a dominantly-inherited microphthalmia pedigree from China.来自中国的一个显性遗传小眼症家系的临床和遗传特征。
Mol Vis. 2009 May 8;15:949-54.
7
Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.巴西家族中与常染色体显性先天性白内障相关的CRYAA、CRYGC和CRYGD的突变分析。
Mol Vis. 2009;15:793-800. Epub 2009 Apr 17.
8
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.CRYGC基因中的一种新型无义突变与常染色体显性先天性核性白内障和小角膜相关。
Mol Vis. 2009;15:276-82. Epub 2009 Feb 6.
9
A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.在一个来自巴基斯坦的大型近亲家族中，一种导致常染色体隐性先天性白内障的新型热休克转录因子4（HSF4）基因突变（p.R405X） 。
BMC Med Genet. 2008 Nov 11;9:99. doi: 10.1186/1471-2350-9-99.
10
Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese family.在中国一个家系中鉴定出20号染色体p12.1-p11.23区域上的一个常染色体显性遗传性婴儿白内障的基因座。
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