| 中国扩张型心肌病与β-肌球蛋白重链基因的相关性研究 |
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| 引用本文： | 程宽,王齐兵,秦胜梅,李敏,李高平,陈瑞珍,杨英珍,葛均波,陈灏珠. 中国扩张型心肌病与β-肌球蛋白重链基因的相关性研究[J]. 中国临床医学, 2007, 14(2): 137-138 |
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| 作者姓名： | 程宽 王齐兵 秦胜梅 李敏 李高平 陈瑞珍 杨英珍 葛均波 陈灏珠 |
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| 作者单位： | 复旦大学附属中山医院心内科上海市心血管病研究所,上海,200032 |
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| 摘 要： | 目的:研究β-肌球蛋白重链基因(MYH-7)在中国扩张型心肌病(DCM)患者中的突变情况。方法:对81例DCM患者(其中8例为家族性DCM先证者)进行MYH-7基因突变扫描,用聚合酶链反应分别扩增MYH-7基因功能区的15个外显子片断,双脱氧末端终止法测序。结果:在所有DCM患者中未检出MYH-7的致病突变,仅在1例散发性DCM患者的7号外显子检出同义突变。结论:MYH-7可能不是中国DCM患者的主要致病候选基因。
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| 关 键 词： | 扩张型心肌病 家族性扩张型心肌病 肌球蛋白重链 基因 突变 |
Correlation between MYH-7 Gene and Dilated Cardiomyopathy in Chinese Patients |
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| CHENG Kuan,WANG Qibing,QIN Shengmei,LI Min,LI Gaoping,CHEN Ruizhen,YANG Yingzhen,GE Junbo,CHEN Haozhu. Correlation between MYH-7 Gene and Dilated Cardiomyopathy in Chinese Patients[J]. Chinese Journal Of Clinical Medicine, 2007, 14(2): 137-138 |
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| Authors: | CHENG Kuan WANG Qibing QIN Shengmei LI Min LI Gaoping CHEN Ruizhen YANG Yingzhen GE Junbo CHEN Haozhu |
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| Abstract: | Objective:To investigate beta-myosin heavy chain gene(MYH-7) mutation in Chinese patients with dilated cardio-myopathy(DCM). Methods:Eighty-one patients with DCM including 8 index patients of familial DCM(FDCM) were enrolled in this study. Fifteen exons in the functional regions of the MYH-7 were amplified with polymerase chain reactions(PCR) and the PCR products were sequenced. Results: No disease-causing mutation in MYH-7 gene was found in all the patients with DCM except for one same-sense mutation in a sporadic case. Conclusion: MYH-7 gene may not be one of the main disease-causing genes in Chinese patients with DCM. |
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| Keywords: | Dilated cardiomyopathy Familial dilated cardiomyopathy Myosin heavy chain Genes Mutation |
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