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CACNA1H基因G773D突变对钙通道功能的影响

The effect of CACNA1H gene G773D mutation on calcium channel function
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摘要 目的研究儿童失神癫痫(childhoodabsenceepilepsy,CAE)患儿CACNA1H基因G773D突变对钙通道功能的影响。方法用定点突变重叠延伸聚合酶链反应(polymerasechainreaction,PCR)方法构建G773D突变体,脂质体法将突变体和野生型人Cav3.2acDNA分别转染HEK-293细胞,获得稳定表达细胞株,全细胞膜片钳法研究其电生理变化。结果突变体和野生型细胞钙通道激活和失活动力学差异无统计学意义,但突变体G773D钙电流密度明显高于野生型。结论CACNA1H基因G773D突变可使其编码通道电流增加,并可能引起神经元兴奋性增加。 Objective To study the effect of CACNA1H gene mutation G773D on calcium channel function. Methods By the overlap extension PCR we introduced G773D mutation into a human Car3.2a eDNA for constructing the mutant. And then using whole-cell clamp technique, we studied the alterations of ehannal behavior in transfected HEK-293 cells. Results There were no difference in kinetics of activation and inactivation of calcium channel between wild type and mutant. However comparing with the wild-type Car3.2 channel, G773D mutant could increase the calcium current density significantly. Conclusion CACNAIH gene G773D mutation is able to increase calcium current and neuronal excitability,
作者 王菊莉 韩重阳 荆玉红 陈育才 冯楠 吕建军 张月华 潘虹 吴沪生 许克铭 姜玉武 梁建民 王玲 王晓良 沈岩 吴希如
机构地区 北京大学第一医院儿科 中国医学科学院中国协和医科大学药物研究所 北京儿童医院 首都儿科研究所 中国医学科学院基础医学研究所
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2006年第4期369-373,共5页 Chinese Journal of Medical Genetics
基金 国家自然科学基金(30371494) 北京大学"十五""211工程""人类功能基因与疾病基因研究"项目(205) 中国博士后科学基金(2004035258)
关键词 儿童失神癫痫 T-型钙通道 突变 膜片钳技术 childhood absence epilepsy T-type calcium channel mutation patch-clamp technique
分类号 R742.1 [医药卫生—神经病学与精神病学]
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参考文献13

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二级参考文献18

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中华医学遗传学杂志
2006年 第4期

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