一个先天性无虹膜家系PAX6基因的新突变  

A novel nmtation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia

作　　者：康杨[1] 原慧萍[1] 李元媛[1] 

机构地区：[1]哈尔滨医科大学附属第二医院眼科,150086

出　　处：《中华医学遗传学杂志》2008年第2期172-175,共4页Chinese Journal of Medical Genetics

基　　金：黑龙江省杰出青年科学基金（JC200620）

摘　　要：目的通过分子遗传学分析，确定中国东北地区一个先天性无虹膜家系PAX6基因的突变位点。方法采集一个家系3例先天性虹膜患者及5名健康成员和100名正常对照者的外周静脉血，应用聚合酶链反应，直接测序法，单链构象多态性技术以及T载体克隆测序等方法确定其突变位点。结果患者为第5外显子从483位点开始9个碱基缺失的框内缺失突变：其密码子位置为4l～43，即缺失门冬氨酸、异亮氨酸和苏氨酸3个氨基酸（c．483del9）。结论PAX6基因是先天性无虹膜的致病基因，发现了PAX6基因一个新的突变位点。Objective To identify the mutation of the PAX5 gene in a northeastern Chinese family with aniridia. Methods Tree aniridia patients from the family were undergone full ophthalmologie examinations. Genomie DNA was prepared from venous leukoeytes from these three patients, five non-carriers in the family as well as 100 healthy normal controls. The coding regions of PAX5 gene were analyzed by PCR amplification, single-strand conformation polymorphism and direct DNA sequencing. Results The sequencing result revealed one novel PAX6 mutation in the three patients with familial aniridia. The mutation is a 9 base pair（bp） deletion in exon 5 （c.483de19） that results in a putative PAX6 protein with in-frame deletions of aspartie acid, isoleueine and sefine at the amino acids 41-43. Conclusion A PAX6 gene mutation beyond the existing spectrum of mutations has been identified in a northeastern Chinese family with aniridia. The genetic analysis suggests that the novel mutation in the PAX6 gene may be the cause of the classical aniridia phenotype.

关 键 词：PAX6基因 先天性无虹膜 框内缺失突变 

分 类 号：R686[医药卫生—骨科学]