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| 先天性无虹膜家系Pax6基因的突变研究 | |
| 引用本文： | 陈琳琳,刘红梅,李栋,张劲松,张学. 先天性无虹膜家系Pax6基因的突变研究[J]. 眼科新进展, 2007, 27(6): 420-423 |
| 作者姓名： | 陈琳琳 刘红梅 李栋 张劲松 张学 |
| 作者单位： | 1. 110031,辽宁省沈阳市第四人民医院眼科 2. 112300,辽宁省开原市中心医院眼科 3. 122000,辽宁省朝阳市第三人民医院眼科 4. 110005,辽宁省沈阳市,中国医科大学附属四院眼科 5. 110005,中国医学科学院基础医学研究所遗传室 |
| 基金项目： | 国家高技术研究发展计划(863计划) |
| 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ABI PRISMTM 377XL DNA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。 |
| 关 键 词： | 先天性无虹膜 突变 Pax6基因 |
| 文章编号： | 1003-5141（2007）06-0420-04 |
| 修稿时间： | 2007-01-242007-05-09 |
Mutation research of Pax6 gene in a Chinese family with inborn aniridia |
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| CHEN Lin-Lin,LIU Hong-Mei,LI Dong,ZHANG Jin-Song,ZHANG Xue. Mutation research of Pax6 gene in a Chinese family with inborn aniridia[J]. Recent Advances in Ophthalmology, 2007, 27(6): 420-423 | |
| Authors: | CHEN Lin-Lin LIU Hong-Mei LI Dong ZHANG Jin-Song ZHANG Xue |
| Affiliation: | 1.From the Department of Ophthalmology, the Fourth Hospital of Shenyang, Shenyang 110031, Liaoning Province, China ; 2.Department of Ophthalmology, the Central Hospital of Kaiyuan, Kaiyuan 112300, Liaoning Province, China; 3.Department of Ophthalmology, the Third Hospitog of Chaoyang, Chaoyang 122000, Liaoning Province, China; 4.Department of Ophthalmology, the Fourth Affiliated Hospital of China Medical University , Shenyang 110005, Liaoning Province, China ; 5.Department of Medical Genetics ,Institute of Basic Medical Science, Chinese Academy of Medical Science, Beijing 110005, China |
| Abstract: | Objective To study the Pax6 gene mutation associated with inborn 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 Pax 6 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 of penetrance,but considerable phenotypic variability.The nonsense R254X (760C>T) mutation of Pax6 gene is a new mutation. |
| Keywords: | inborn aniridia mutation Pax6 gene |
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