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41～43,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.

abstractsObjective To identify the mutation of the PAX6 gene in a northeastern Chinese family with aniridia.Methods Three aniridia patients from the family were undergone full ophthalmologic examinations.cenomic DNA was prepared from venous leukocytes from these three patients,five non-carriers in the family as well as 100 healthy normal controls.The coding regious of PAX6 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.483del9)that results in a putative PAX6 protein with in-frame deletions of aspartic acid,isoleucine and serrine at the amino acids41-43.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.