摘要目的：确定东北地区一个先天性无虹膜家系 PAX6基因的突变位点。方法对先天性无虹膜家系中2例患者进行详尽的眼部检查,采集该家系所有成员和100名正常对照者的外周静脉血,提取基因组 DNA,PCR 扩增 PAX6基因的11个编码外显子及其邻近的部分内含子,对所有扩增基因进行直接测序确定致病的基因突变。结果该家系2例患者在第9外显子出现一个无义突变(c.718 C>T),家系患者的眼表型差异较大,其中一患者表现为罕见的角膜不规则形态。结论PAX6是该家系的致病基因, c.718C>T突变虽然是先天性无虹膜患者的热点突变,但在中国东北地区汉族人中未见报道。

abstractsObjective To identify potential mutation of the PAX6 gene in a family affected with congenital aniridia from northeastern China.Methods Two patients were collected from the family and underwent full ophthalmologic examinations.Genomic DNA was extracted from all family numbers and 100 healthy controls.The coding regions and flanking sequence of the PAX6 gene were amplified by PCR amplification and subjected to bidirectional DNA sequencing.Results A nonsense mutation (c.718 C>T) was identified in exon 9 in both patients but not in other unaffected families or the 100 healthy controls. However,obvious difference was noted in the phenotype between the two patients.One of the patient has presented irregular cornea,which was infrequently reported.Conclusion A c.718C > T transitional mutation has been found to underlie the aniridia,which showed an autosomal dominant inheritance pattern in this northeastern Chinese family.