周林林   潘志强   马旭   邹留河

首都医科大学附属北京同仁医院   北京同仁眼科中心   中国人口计划生育研究所   100730

Purpose:To identify genetic mutations in PAX6 of three Chinese families with congenital aniridia.

Method:Three congenital aniridia families were identified.Total genomic DNA was isolated from peripheral blood of the congenital aniridia patients and all healthy people in three Chinese families.Fourteen exons of the PAX6 gene were amplified by polymerase chain reaction(PCR).PCR products of each exon were sequenced to identify the mutation.

Results:Two novel mutations in exon 12 of PAX6 were detected by sequencing analysis in two of the tree congenital aniridia families，another family was found without PAX6 mutation.One mutation was the deletion of four nucleic acids tcct in exon 12，leading to a frame shift mutation and generating a novel 40 amino acid peptide from codon 165.The other mutation was the transition from C to T in exon 12，leading to the production of a stop codon and resulting in the premature stopping of protein translation.
Conclusion:Two novel PAX6 gene mutations account for the disease in the two Chinese aniridia families.