A novel PAX6 mutation (c.1286delC) in the patients with hereditary congenital aniridia
A novel PAX6 mutation (c.1286delC) in the patients with hereditary congenital aniridia
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DOI：
10.3724/sp.j.1005.2008.01301
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发表时间：
2008-10-01
期刊：
影响因子：
--
通讯作者：
Ma Xu
中科院分区：
文献类型：
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作者：
Sun Da-Guang;Yang Ju-Hua;Ma Xu
为了研究遗传性先天性无虹膜的分子遗传机制，我们从中国无虹膜家族的2例患者的基因组DNA中，通过PCR扩增出PAX6基因的整个编码外显子（外显子4-13）及其侧翼外显子-内含子连接。PCR产物从琼脂糖凝胶中纯化并测序。在这两例患者中，在第11外显子中发现了一个新的缺失突变（c. 1286delC）。与PAX6基因的正常产物相比，该突变引起了框架移位，并从密码子309产生了一个新的55个氨基酸的肽。这种缺失还导致过早终止密码子（PTC）和提前终止肽的合成。同时，通过PCR-RFLR检测，该突变在所有未患病家庭成员和50名正常对照个体中均不存在
To study the molecular genetic mechanism of hereditary congenital anifidia, the entire coding exons (exon 4-13) of PAX6 gene and the flanking exon-intron junctions were amplified through PCR from the genomic DNA of all the two patients in a Chinese family with aniridia. PCR products were purified from agarose gel and sequenced. In both patients, a novel deletion mutation (c. 1286delC) in exon 11 was identified. Compared with the normal product of PAX6 gene, this mutation caused frame shifting, and generated a novel 55 amino acid peptide from codon 309. This deletion also resulted in premature termination codon (PTC) and preterminated peptide synthesis. Meanwhile, this mutation was absent in all the unaffected family members and 50 normal control individuals through PCR-RFLR