中国北方先天性白内障家系中缝隙连接蛋白基因突变的筛查  

Screening mutation of gap junction protein gene in congenital cataract patients in Northern

作　　者：布娟[1] 李宁东[1] 陈文生[2] 张秀梅 赵堪兴[1] 

机构地区：[1]中国天津市眼科医院,天津市眼科研究所,300020 [2]天津医科大学博士后流动站,中国天津市300070 [3]中国河南省焦作卫校,454001

出　　处：《国际眼科杂志》2005年第5期925-928,共4页International Eye Science

摘　　要：目的:在一中国人先天性白内障家系中进行缝隙连接蛋白基因(GJA3、GJA8)突变筛查。方法:通过聚合酶链反应(polymerasechainreac-tion,PCR)对一先天性白内障家系中的全部患者进行GJA3基因及GJA8基因外显子的扩增,扩增产物进行直接测序。结果:该家系GJA8基因的外显子及其邻近的内含子未发现任何突变。先证者GJA3基因外显子非编码区发现碱基CA的缺失。结论:缝隙连接蛋白基因为该先天性白内障家系的非致病性基因。AIM： To screen mutations of GJA3 gene and GJA8 gene in Chinese patients with autosomal dominant congenital cataract. METHODS： The complete coding region and intron spliced sites of GJA3 and GJA8 were amplified with polymerase chain reaction （PCR）, and the products of PCR were directly sequenced. RESULTS： No mutations were found in GJA8 gene in all patients of this family. Deletion of CA in no coding region of GJA3 gene was found. CONCLUSION： Gap junction protein gene is not the cause of our investigated congenital cataract family.

关 键 词：先天性白内障 GJA3基因 GJA8基因 突变 先天性白内障 缝隙连接蛋白 基因突变 中国北方 家系 筛查 基因外显子 连接蛋白基因 聚合酶链反应 

分 类 号：R776.1[医药卫生—眼科] R541.75[医药卫生—临床医学]