PAX6基因5′端非编码区剪接突变能够引起先天性无虹膜症  

5'-UTR splicing mutation in PAX6 gene can result in congenital aniridia

作　　者：张小燕[1,2] 唐凯[3] 荣运久[3] 宋书娟[1,2] 

机构地区：[1]北京大学医学部医学遗传学系 [2]北京大学干细胞研究中心,北京100083 [3]解放军第89医院,山东潍坊261000

出　　处：《中国优生与遗传杂志》2009年第12期12-14,共3页Chinese Journal of Birth Health & Heredity

基　　金：十一五国家科技攻关项目(No.2006BAI05A07)项目资助

摘　　要：目的对一先天性无虹膜症家系进行了致病基因PAX6的突变分析。方法PCR反应扩增PAX6基因的所有外显子,PCR产物进行SSCP(单链构象多态性)分析,通过患者与正常人带型的差异来确定突变发生的外显子,对有差异SSCP带型的PCR产物进行直接测序找到突变位点。PCR产物进一步亚克隆到pGEM-T载体,测序验证突变位点。结果发现基因突变为PAX6基因第2内含子和第3外显子之间的剪接识别位点"AG"中的碱基A的丢失(IVS2-2delA)。结沦PAX6基因5′端非编码区剪接突变能够引起先天性无虹膜症。Objective： To determine the genetic mutation site of a family with congenital aniridia. Methods： After the genomie DNA was extracted, all exons of the human PAX6 gene were amplified by Polymerase chain reaction （PCR） and allele specific variations were detected by single strand conformation polymorphism （SSCP） followed by automated sequencing. The superimposed mutant PCR products were subcloned into pGEM - T vector and sequenced to confirm the mutation. Result ： A mutation located in the 5＇ untranslated region （UTR） of PAX6 gene （IVS2 -2delA） that destroys a splice aeceptor site in intron 2 was identified. Conclusion： 5＇ - UTR splicing mutation in PAX6 gene can result in congenital aniridia.

关 键 词：PAX6 非编码区 突变 无虹膜 

分 类 号：R773.1[医药卫生—眼科]