| 国人SCN5A基因新的同义突变位点 |
| |
| 引用本文： | 任法鑫,杨钧国,李伟,胡骏,袁国会,杜戎,桂乐. 国人SCN5A基因新的同义突变位点[J]. 中国循环杂志, 2004, 19(5): 370-372 |
| |
| 作者姓名： | 任法鑫 杨钧国 李伟 胡骏 袁国会 杜戎 桂乐 |
| |
| 作者单位： | 1. 青岛大学附属烟台毓璜顶医院,心内科,264000
2. 430022,湖北省武汉市,华中科技大学同济医学院心血管病研究所协和医院,心内科 |
| |
| 摘 要： | 目的:研究中国人心原性猝死相关基因SCN5A突变位点.方法:采用聚合酶链反应和DNA测序对1例RQT间期综合征(LQTs)和2例特发性J波患者SCN5A基因进行突变检测.结果:①3例患者在国内、外已知的SCN5A突变位点上,均未发现有突变.②发现1个新的同义突变(T990C),位于钠通道α-亚基的DⅠ区段S5～S6胞外环上.结论:这个新的同义突变可能通过影响门控性钠通道的跨膜电流而与恶性心律失常的发生相关.
|
| 关 键 词： | 基因 SCN5A 钠通道 同义突变 |
| 文章编号： | 1000-3614(2004)05-0370-03 |
| 修稿时间： | 2003-10-30 |
A Novel Sense Mutation of SCN5A Gene in Chinese Population |
| |
| Ren Faxin ,Yang Junguo,Li Wei,et al.. A Novel Sense Mutation of SCN5A Gene in Chinese Population[J]. Chinese Circulation Journal, 2004, 19(5): 370-372 |
| |
| Authors: | Ren Faxin Yang Junguo Li Wei et al. |
| |
| Abstract: | Objective:To study mutation of sudden death released gene,SCN5A,in Chinese population. Methods:One Chinese family with long QT syndrome and two idiopathic J wave patients were detected for SCN5A gene mutation. Genomic DNA was extracted from peripheral blood leukocytes. All 28 exons of SCN5A were amplified by polymerase chain reaction using 34 pairs primers.The PCR products were sequenced directly. Results:A new sense mutation (T990C) was found. Conclusion:We presumed this sense mutation is associated with long QT syndrome and idiopathic J waves. It may be responsible by impacting sodium channel current,for malignant arrhythmia in Chinese population. |
| |
| Keywords: | Gene SCN5A Sodium channel Sense mutation |
| 本文献已被 CNKI 万方数据 等数据库收录！ |
|
