一个新的GJA8突变导致一家系遗传性白内障  

Study of a family congenital cataract induced by a novel mutation of GJA8

作　　者：肖伟[1] 张天晓[2] 张劲松[2] 

机构地区：[1]中国医科大学附属盛京医院眼科,辽宁省沈阳市110003 [2]中国医科大学附属第四医院眼科,辽宁省沈阳市110032

出　　处：《眼科新进展》2011年第4期332-334,340,共4页Recent Advances in Ophthalmology

基　　金：国家自然科学基金资助(编号:30973276);辽宁省科技厅科学计划项目(编号:20084080021)~~

摘　　要：目的鉴定一个新的常染色体显性遗传性白内障家系的致病性基因突变。方法在前期对本家系基因定位研究的基础上,通过对GJA8基因测序鉴定致病基因及酶切电泳验证突变。结果对缝隙连接蛋白50(connexin50,CX50;编码为GJA8)基因DNA序列分析鉴定显示其第2个外显子的773位核苷酸上C到T的杂和错义突变,引起其蛋白产物258位丝氨酸被苯丙氨酸替代。结论本研究在一遗传性白内障家系发现并鉴定了一个新的GJA8错义突变(S258F),并认为其与导致该家系常染色体显性遗传性白内障发病有关。Objective To identify a morbigenous mutation of a autosomal dominant congenital cataract（ADCC） family. Methods On the basis of positioning study of genes in this family,mutation detection was performed in GJA8 gene to determine the virulence genes by directly sequencing of amplified products and mutation by enzyme cutting electrophoresis. Results Mutation screening of DNA sequence in connexin50（CX50） with coding of GJA8 identified a novel C to T transversion at nucleotide position c.773,which was predicted to resulted in the non-conservative substitution of phenylalanine for serine at amino-acid residue 258（S258F） in the processed gap junction channel protein connexin 50. Conclusion The present study identifies a novel mutation in GJA8（S258F） in a family,which is thought to be closely related to ADCC.

关 键 词：常染色体显性遗传性白内障 基因突变 GJA8 缝隙连接蛋白50 

分 类 号：R776.1[医药卫生—眼科]