|A novel PAX6 gene mutation in a Chinese family with aniridia|
|Song, SJ1; Liu, YZ1; Guo, SH1; Zhang, LR1; Zhang, XY1; Wang, SL1; Lu, AL1; Li, LS1|
|WOS标题词||Science & Technology|
|类目[WOS]||Biochemistry & Molecular Biology ; Ophthalmology|
|研究领域[WOS]||Biochemistry & Molecular Biology ; Ophthalmology|
|关键词[WOS]||CONGENITAL EYE MALFORMATIONS ; MISSENSE MUTATIONS ; REGION|
PURPOSE: The PAX6 gene mutation in aniridia has been studied in various ethnic patients, but not well studied in the Chinese population. In the present study, we have investigated the PAX6 gene mutation in a Chinese family with congenital aniridia.
METHODS: Total genomic DNA was isolated from peripheral blood of three aniridia patients (who also suffered from bilateral congenital cataracts) and two non-carriers in a Chinese family. Fourteen exons of the PAX6 gene were amplified by polymerase chain reaction (PCR). PCR products of each exon were analyzed by single strand conformational polymorphism (SSCP). The PCR products with abnormal SSCP patterns were subcloned and sequenced to identify the mutation.
RESULTS: Abnormal SSCP patterns were found in all affected patients but not in non-carrier family members. A novel mutation (c.857delG) in exon 7 was detected by sequencing analysis. This frame shift mutation was predicted to lead to a pre-stop codon in exon 8, and generate a novel 40 amino acid peptide from codon 165.
CONCLUSIONS: A novel PAX6 gene mutation was identified in a Chinese aniridia family. This mutation may also contribute to congenital cataracts in these aniridia patients.
|作者单位||1.Peking Univ, Stem Cell Res Ctr, Beijing 100083, Peoples R China|
2.Cent Hosp Chaoyang City, Liaoning, Peoples R China
3.Dehong Hosp, Yunnan, Peoples R China
4.Peking Univ, Hlth Sci Ctr, Dept Cell Biol, Beijing 100871, Peoples R China
|Song, SJ,Liu, YZ,Guo, SH,et al. A novel PAX6 gene mutation in a Chinese family with aniridia[J]. MOLECULAR VISION,2005,11(38-39):335-337.|
|APA||Song, SJ.,Liu, YZ.,Guo, SH.,Zhang, LR.,Zhang, XY.,...&Li, LS.(2005).A novel PAX6 gene mutation in a Chinese family with aniridia.MOLECULAR VISION,11(38-39),335-337.|
|MLA||Song, SJ,et al."A novel PAX6 gene mutation in a Chinese family with aniridia".MOLECULAR VISION 11.38-39(2005):335-337.|
|A novel PAX6 gene mu（95KB）||期刊论文||出版稿||开放获取||CC BY-NC-SA||浏览 请求全文|