中国全科医学2012，Vol.15Issue(12)：1372-1374,3.
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
摘要
Abstract
Objective To investigate the molecular basis of autosomal dominant congenital aniridia in a family. Methods Clinical examinations were performed in six members of the three - generation pedigree. Genomic DNA was extracted 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 truncation 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Key words
Congenital aniridia/ PAX6 gene/ Mutation分类
医药卫生引用本文复制引用
庄建福,阳菊华,朱益华,童绎,马旭,赵堪兴..PAX6基因R203X无义突变导致家族性先天无虹膜[J].中国全科医学,2012,15(12):1372-1374,3.基金项目
福建省自然科学基金项目(2010J06010) （2010J06010）
福建省高校跨世纪优秀人才项目(JA10127) （JA10127）
福建医科大学重大科研项目(09ZD016) （09ZD016）
