Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China.
Ophthalmic Res. 2012;47(1):27-31. doi: 10.1159/000327593. Epub 2011 Jun 21.
Mutations in the PAX6 are the major cause of congenital aniridia. The objective of this study was to analyze genetic mutations in PAX6 in Chinese patients with congenital aniridia.
Total genomic DNA was isolated from the peripheral blood of the aniridia patients, all healthy family members and 100 healthy volunteers. The 14 exons (including alternatively spliced exon 5a) of the PAX6 gene were amplified by polymerase chain reaction, and the products were sequenced to identify the mutation.
Two mutations of PAX6 were detected in exon 11 in the congenital aniridia patients. One mutation was caused by the duplication of the 4 nucleic acids CTCC (c.1286insCTCC), which would lead to a frameshift. The other mutation was caused by a transition from C to T (c.1311C → T), which would generate a stop codon. Neither mutation was present in the healthy family members or 100 healthy volunteers.
We examined the exon sequence of the PAX6 gene in a Chinese family and an unrelated individual with aniridia. The predicted outcome of both mutations is premature termination. The mutation found in the unrelated individual has not previously been reported and represents a new addition to the spectrum of mutations in PAX6.
PAX6 基因突变是先天性无虹膜的主要原因。本研究旨在分析中国先天性无虹膜患者 PAX6 基因的遗传突变。
从无虹膜患者、所有健康家庭成员和 100 名健康志愿者的外周血中提取总基因组 DNA。通过聚合酶链反应扩增 PAX6 基因的 14 个外显子（包括选择性剪接的外显子 5a），并对产物进行测序以确定突变。
在先天性无虹膜患者的外显子 11 中检测到 2 种 PAX6 突变。一种突变是由 4 个核苷酸 CTCC 的重复引起的（c.1286insCTCC），这将导致移码。另一种突变是由 C 突变为 T（c.1311C → T）引起的，这将产生一个终止密码子。这两种突变均不存在于健康家庭成员或 100 名健康志愿者中。
我们检查了一个中国家庭和一个无关个体的 PAX6 基因外显子序列，这些个体患有无虹膜。这两种突变的预测结果都是提前终止。在无关个体中发现的突变以前没有报道过，是 PAX6 基因突变谱的新成员。
