先天性无虹膜家系Pax6基因的突变研究  

Mutation research of Pax6 gene in a Chinese family with inborn aniridia

作　　者：陈琳琳[1] 刘红梅 李栋 张劲松[4] 张学[5] 

机构地区：[1]辽宁省沈阳市第四人民医院眼科,110031 [2]辽宁省开原市中心医院眼科,112300 [3]辽宁省朝阳市第三人民医院眼科,122000 [4]中国医科大学附属四院眼科,辽宁省沈阳市110005 [5]中国医学科学院基础医学研究所遗传室,110005

出　　处：《眼科新进展》2007年第6期420-423,共4页Recent Advances in Ophthalmology

基　　金：国家科技公关(863)计划项目基金资助(编号:2002BA711A07)~~

摘　　要：目的对一先天性无虹膜症家系的致病基因Pax6基因进行突变检测分析。方法对该家系进行家系调查及外周血样本采集,Pax6基因全部外显子测序,使用美国ABIPRISMTM377XLDNA自动测序仪,应用双脱氧末端终止法进行序列分析;用MspI进行突变鉴定。结果该家系共5代58人,患病21例,采集血样28人份,测序结果发现Pax6基因R254X(760C>T)突变。结论先天性无虹膜症的遗传方式为常染色体显性遗传,呈高度临床及遗传异质性,无义突变R254X(760C>T)为一新突变。Objective To study the Pax6 gene mutation associated with in- born aniridia in a Chinese pedigree. Methods A pedigree investigation was used and the peripheral blood sample was collected. The PCR products containing all exons of the Pax6 gene was sequenced on ABI PRISMTM 377XL DNA sequencer by dideoxydation end termination method. The variant allele was identified by the MspI restriction enzyme. Results The large five-generation family consisted of 58 individuals and there were 21 patients,28 blood samples from peripheral veins were collected. Direct automated sequencing of these PCR products containing all exons revealed a R254X （ 760C 〉 T） mutation in the Pax6 gene. Conclusion Inborn aniridia （ iris hypoplasis） is an autosomal dominant genetic disorder of the eye, It has a high degree ofpenetrance,but considerable phenotypic variability. The nonsense R254X （ 760C 〉 T） mutation of Pax6 gene is a new mutation.

关 键 词：先天性无虹膜 突变 PAX6基因 

分 类 号：R774[医药卫生—眼科]