IR@PKUHSC  > 北京大学第二临床医学院
学科主题临床医学
A novel nonsense mutation Y652X in the S6/pore region of human ether-go-go gene found in a long QT syndrome family
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
2009
DOI10.1080/14017430802582610
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
资助者National Basic Research Program of China ; National Basic Research Program of China
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
资助者National Basic Research Program of China ; National Basic Research Program of China
WOS记录号WOS:000266203500008
Citation statistics
Cited Times:5[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/50748
Collection北京大学第二临床医学院
作者单位Peking Univ, Peoples Hosp, Dept Cardiac Electrophysiol, Beijing, Peoples R China
Recommended Citation
GB/T 7714
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.
APA Sun, Yaxun.,Zhang, Ping.,Li, Xuebin.,Zhang, Haicheng.,Li, Jiwen.,...&Guo, Jihong.(2009).A novel nonsense mutation Y652X in the S6/pore region of human ether-go-go gene found in a long QT syndrome family.SCANDINAVIAN CARDIOVASCULAR JOURNAL,43(3),181-186.
MLA Sun, Yaxun,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".SCANDINAVIAN CARDIOVASCULAR JOURNAL 43.3(2009):181-186.
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