学科主题基础医学
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
刊名MOLECULAR VISION
2005-05-06
11期:38-39页:335-337
收录类别SCI
文章类型Article
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
英文摘要

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.

语种英语
WOS记录号WOS:000229023000002
引用统计
被引频次:10[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/52012
专题北京大学基础医学院_北京大学干细胞研究中心
北京大学基础医学院
北京大学药学院_药物化学系
北京大学第三临床医学院_医院感染管理科
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
推荐引用方式
GB/T 7714
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.
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