PAX6基因在一先天性无虹膜家系中的突变筛查

目的研究PAX6基因突变是否是导致一先天性无虹膜家系致病的原因。方法收集一先天性无虹膜家系,制备外周血基因组DNA,PCR扩增PAX6基因的外显子及其邻近的内含子,应用单链构象多态性（SSCP）法检测,如果发现变异条带,将相应的扩增产物回收并纯化后进行PAX6基因测序。测序结果与GenBank公布的PAX6基因正常序列比对,寻找有无突变。结果本家系43名成员中有8例患病,遗传方式符合常染色体显性遗传特点,40岁以上的4例患者眼压高于35mmHg。所有患者中未发现全身并发症。在家系所有患者中均未发现异常条带。结论 PAX6基因与该先天性无虹膜家系无关。该家系的致病基因有待进一步通过全基因组扫描的方法来确定。

Screen of mutation of PAX6 in a Chinese family with autosomal dominant congenital aniridia

Background Inheritance pattern of congenital aniridia included autosomal-dominant mode and autosome-recessive mode.Mutation of PAX6 gene has been determined to be the cause of congenital aniridia.Objective The aim of this study was to screen the mutation of PAX6 gene in Chinese patients with familial congenital aniridia.Methods One Chinese families with congenital aniridia were examined.The periphery blood samples were taken from the 25 subjects and 8 patients in this family for genomic DNA preparation.Single-strand conformation polymorphism （SSCP） method was performed to screen the mutation of PAX6 gene,and the abnormal bands were detected by 10% polyacrylamide gels stained by silver.The sequence of abnormal bands was compared with the normal sequences offered by GenBank.This study procedure followed Helsinki Declaration and was approved by Ethic Committee of Peking University Third Hospital.Results This family included 43 members and 8 of them appeared as congenital aniridia.The inheritance pattern of this family accorded with the autosomal-dominant mode.Nystagmus and absence of iris were found under the slit lamp in 8 patients and the mean intraocular pressure was 35 mmHg in 4 patients with the age of over 40 years.No system complication was found in all the patients.No abnormal band was detected in 8 patients of this family.Conclusion The phenotypes of 8 patients of this family are not associated with mutation of PAX6 gene.Gene scan is necessary for us to further investigate the cause in this familial congenital aniridia.