A novel PAX6 mutation (c.1286delC) in the patients with hereditary congenital aniridia
1. Graduate School, Peking Union Medical College, Beijing 100730, China;
2. Department of Genetics, National Research Institute for Family Planning, Beijing 100081, China;
3. WHO Collaborative Center for Research in Human Reproduction, Beijing 100081, China;
4. Biomedical Engineering Center of Fujian Medical University, Fuzhou 350004, China;
5. Department of Ophthalmology, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China;
6. Fuzhou Southeast Eye Hospital, Fuzhou 350009, China
Received date: 2008-04-30
Revised date: 2008-07-03
Online published: 2008-10-10
Abstract: To study the molecular genetic mechanism of hereditary congenital aniridia, 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 a 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-RFLP.
SUN Da-Guang, YANG Ju-Hua, TONG Yi, ZHAO Guang-Jian, MA Xu . A novel PAX6 mutation (c.1286delC) in the patients with hereditary congenital aniridia[J]. Hereditas(Beijing), 2008 , 30(10) : 1301 -1306 . DOI: 10.3724/SP.J.1005.2008.01301
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