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学科主题: 基础医学
题名:
A novel PAX6 gene mutation in a Chinese family with aniridia
作者: Song, SJ1; Liu, YZ1; Guo, SH1; Zhang, LR1; Zhang, XY1; Wang, SL1; Lu, AL1; Li, LS1
刊名: MOLECULAR VISION
发表日期: 2005-05-06
卷: 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
Citation statistics:
内容类型: 期刊论文
版本: 出版稿
URI标识: http://ir.bjmu.edu.cn/handle/400002259/52012
Appears in Collections:基础医学院_北京大学干细胞研究中心_期刊论文

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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

Recommended Citation:
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.
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