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学科主题: 临床医学
题名:
A novel nonsense mutation Y652X in the S6/pore region of human ether-go-go gene found in a long QT syndrome family
作者: Sun, Yaxun; Zhang, Ping; Li, Xuebin; Zhang, Haicheng; Li, Jiwen; Liu, Gang; Guo, Jihong
关键词: HERG ; Long QT syndrome ; nonsense mediated decay ; nonsense mutation ; novel mutation
刊名: SCANDINAVIAN CARDIOVASCULAR JOURNAL
发表日期: 2009
DOI: 10.1080/14017430802582610
卷: 43, 期:3, 页:181-186
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Cardiac & Cardiovascular Systems
研究领域[WOS]: Cardiovascular System & Cardiology
关键词[WOS]: MESSENGER-RNA DECAY ; CARDIAC-ARRHYTHMIA ; POTASSIUM CHANNEL ; HERG ; SPECTRUM ; DISEASE
英文摘要:

Objectives. To investigate the gene mutation and its possible mechanism in a long QT family. Design. Using DNA samples obtained from the proband and his family members, we sequenced all the exons and flanking intron regions of human ether-go-go gene (HERG) gene using polymerase chain reaction (PCR) and direct sequencing. We also investigated the mRNA expression of the HERG gene in mutation carriers. Results. We found a novel nonsense mutation (Y652X) in the HERG gene. There were six mutation carriers in the family The Y652X mutation located in the S6/pore region and subjected to the mechanism of nonsense-mediated decay (NMD) according to the proposed NMD rules. The mRNA level of the HERG gene was significantly lower in Y652X carriers than in non-carriers. The mRNA expressed from the normal alleles was about 54% of that expressed in the non-carriers. Conclusions. A novel nonsense mutation was found in a LQTS family. The mutated transcript was subjected to NMD mechanism according to the NMD rule. NMD might contribute to the mild phenotype presented in the pore surrounding mutation carriers.

语种: 英语
所属项目编号: 2007CB512008
项目资助者: National Basic Research Program of China
WOS记录号: WOS:000266203500008
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/50748
Appears in Collections:北京大学第二临床医学院_期刊论文

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作者单位: Peking Univ, Peoples Hosp, Dept Cardiac Electrophysiol, Beijing, Peoples R China

Recommended Citation:
Sun, Yaxun,Zhang, Ping,Li, Xuebin,et al. A novel nonsense mutation Y652X in the S6/pore region of human ether-go-go gene found in a long QT syndrome family[J]. SCANDINAVIAN CARDIOVASCULAR JOURNAL,2009,43(3):181-186.
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