一个先天性无虹膜家系PAX6基因突变分析  

Identification of a novel PAX6 mutation in a family with congenital aniridia

作　　者：李娟[1] 赵丽[1] 柴晓静[1] 陆莉[1] 李刚 

机构地区：[1]兰州大学第一医院中心实验室,730000 [2]甘肃省张掖市甘州区医院眼科

出　　处：《中华医学遗传学杂志》2013年第5期579-581,共3页Chinese Journal of Medical Genetics

摘　　要：目的研究1个遗传性先天性无虹膜家系患者发病的分子遗传学机制。方法应用PCR产物直接测序法对1个遗传性先天性无虹膜家系的2例患者（先证者及其母亲）和1名正常家系成员的PAX6基因编码区的15个外显子（第1～15外显子）进行突变分析。结果先证者及其母亲的PAX6基因第13外显子均发现C．957—958delCA突变，其父亲未检测到相同突变;PAX6基因其它外显子均未发现序列异常。结论PAX6基因第13外显子c．957—958delCA突变是该家系发生先天性无虹膜病的主要原因。Objective To detect potential mutation in a Chinese family where two individuals were affected with hereditary congenital aniridia. Methods Peripheral blood samples were taken for genomic DNA extraction. All of the 15 exons of PAX6 gene were amplified with PCR, and the product were purified with gel electrophoresis and sequenced. Results In both patients, a novel deletion mutation （c. 957- 958delCA） in exon 13 of PAX6 gene was identified, which has produced a terminator codon. The same mutation was not identified in healthy controls. Conclusion A c. 957-958delCA mutation of PAX6 gene is probably the cause of aniridia in this Chinese family.

关 键 词：遗传性先天性无虹膜 PAX6基因 基因突变 

分 类 号：R773.1[医药卫生—眼科]