PAX6基因R203X无义突变导致家族性先天无虹膜  

Nonsense Mutation R203X of PAX6 Gene in Chinese Congenital Aniridia Family

作　　者：庄建福[1,2] 阳菊华[3,4] 朱益华[5] 童绎[5] 马旭[4] 赵堪兴[1] 

机构地区：[1]天津医科大学眼科临床学院,天津市眼科医院,天津市眼科研究所,天津市300020 [2]厦门大学附属厦门眼科中心 [3]福建医科大学医药生物工程中心 [4]国家人口计生委科学技术研究所遗传学研究室 [5]福建医科大学附属第一医院眼科

出　　处：《中国全科医学》2012年第12期1372-1374,共3页Chinese General Practice

基　　金：福建省自然科学基金项目(2010J06010);福建省高校跨世纪优秀人才项目(JA10127);福建医科大学重大科研项目(09ZD016)

摘　　要：目的探讨一个先天性无虹膜家系致病的分子基础。方法对一个先天性无虹膜家系进行全面的眼部检查,采集该家系的4例患者和两名健康成员外周静脉血,提取基因组DNA。采用DNA直接测序的方法分析无虹膜候选致病基因PAX6的14个外显子及其外显子-内含子拼接部的序列。结果该家系患者PAX6基因第8外显子存在一个杂合性突变c.C607T,导致编码蛋白在203位的精氨酸(p.R203X)处提前终止,产生一个变异蛋白;而家系正常成员未发现此突变,表型与突变位点呈共分离。结论 c.C607T(p.R203X)突变是PAX6基因导致无虹膜的突变热点之一,也存在于中国无虹膜家系中。Objective To investigate the molecular basis of autosomal dominant congenital aniridia in a fami- ly. Methods Clinical examinations were performed in six members of the three - generation pedigree. Genomic DNA was extrac- ted from peripheral blood leukocytes. The coding exons and splice junctions of the human PAX6 gene were amplified by polymerase chain reaction （PCR） . The PCR products were purified, and then were performed direct sequencing. The variation detected was further confirmed in available other family members by bidirectional sequencing. Results A heterozyzous mutation c. C607T of PAX6 was found in all of four patients but not in unaffected individuals. This nonsense mutation was predicted to result in the trun- cation of the protein product within the linker region of PAX6 （ p. R203X） . The mutation co - segregated with the disease pheno- type in all available family members. Conclusion The known mutation R203X, one of the three common recurrent mutations in PAX6, is also presented in Chinese family with aniridia.

关 键 词：先天性无虹膜 PAX6基因 突变 

分 类 号：R773.1[医药卫生—眼科]