一个白内障家系的临床特征及基因突变研究  

Study of clinical features and mutation analyses in a cataract pedigree

作　　者：何洁儿[1] 吴明星[1] 刘良平[1] 吴涵夫[1] 詹姣[1] 朱一[1] 张新愉[1] 

机构地区：[1]中山大学中山眼科中心白内障实验室,广州510060

出　　处：《广东医学》2013年第8期1179-1181,共3页Guangdong Medical Journal

基　　金：国家自然科学基金资助项目(编号:81070719;81200670);广东省第一批科学事业费计划项目(编号:2011B050400022);中央高校基本科研业务费专项资金(编号:09YKPY71)

摘　　要：目的对1个先天性绕核粉尘状白内障家系的临床特点及基因突变进行研究,探索先天性白内障发病的遗传机制。方法收集确诊为常染色体显性遗传的一个绕核粉尘状白内障家系的外周静脉血,提取基因组DNA,针对现有国内外文献已报道的与该家系白内障表型相关的10个基因设计引物,对患者基因片段进行扩增和序列分析,比对已发现的10个基因序列,查找是否有序列改变。结果被检查者的10个发病相关基因片段的序列中,GJA3基因的外显子发现杂合性突变位点(912C>A,1372A>G),其余9个与GenBank发表的正常序列相同。结论 GJA3基因外显子上发现了新的杂合性突变位点,其对先天性白内障的作用需进一步的研究。Objective To determine the etiology of congenital cataract by detecting the gene mutation and clinical features of the three - generation Chinese family with lamellar pulverulent cataract. Methods Venous blood was collected from family members to extract DNA. Ten different genes were identified as the cause of autosomal congenital lamellar pulverulent cataract, which were screened by PCR amplification and sequencing. Results Heterozygote mutations （912C 〉 A, 1372A 〉 G） were found in gene GJA3. No mutation was found at other autosomal dominant lamellar pulverulent mutation genes. Conclusion A novel single nucleotide polymorphism is discovered, while further study is required to determine the protective effect of the novo mutation from congenial cataract.

关 键 词：先天性白内障 常染色体显性遗传 基因突变 序列分析 

分 类 号：R776.1[医药卫生—眼科]