| 心脏β-肌球蛋白重链1382位氨基酸不同突变导致肥厚型心肌病表型研究 |
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| 引用本文： | 罗晓亮,吴桂鑫,张沫,王丽梅,王虎,王继征,宋雷,袁建松,乔树宾,邹玉宝.心脏β-肌球蛋白重链1382位氨基酸不同突变导致肥厚型心肌病表型研究[J].中国分子心脏病学杂志,2019(1):2738-2741. |
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| 作者姓名： | 罗晓亮 吴桂鑫 张沫 王丽梅 王虎 王继征 宋雷 袁建松 乔树宾 邹玉宝 |
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| 作者单位： | 中国医学科学院北京协和医学院国家心血管病中心阜外医院心内科;中国医学科学院北京协和医学院国家心血管病中心阜外医院心血管疾病国家重点实验室 |
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| 基金项目： | 国家自然科学基金面上项目(81670274) |
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| 摘 要： | 目的观察肥厚型心肌病(HCM)致病基因突变导致同一位点氨基酸不同改变的临床表型变化特点,为遗传型-表型关系研究积累数据。方法在529例HCM患者以及307名健康对照者中进行β-肌球蛋白重链基因(MYH7)目标区域靶向捕获再测序筛查,发现的基因变异性Sanger法测序验证。。结果在1例HCM患者中首次发现MYH7基因29号外显子第4145位碱基由G转换为A,结果导致1382位的精氨酸(Arg,R)转变为谷氨酰胺(Gln, Q),另1例HCM患者,29号外显子第4144位碱基由C转换为T,结果导致1382位的精氨酸(Arg,R)转变为色氨酸(Trp, W),正常对照组相同位置1382位表达为精氨酸(Arg,R)。MYH71382位氨基酸发生改变的两例HCM患者临床表型均为肥厚型梗阻性心肌病,并且均在住院期间接受了经皮室间隔心肌消融术治疗,长期随访预后良好。结论首次在中国人HCM患者中发现MYH7基因Arg1382Gln突变,该位点氨基酸发生不同改变后具有相似的临床表型,表现为肥厚型梗阻性心肌病、经室间隔心肌消融术治疗效果好。提示一旦发现该位点基因突变就有可能实现临床表型预测。
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| 关 键 词： | 肥厚型心肌病 基因突变 经皮室间隔心肌消融 临床表型 |
Study of the relationship between phenotype and mutation of number 1382 amino acid in the cardiac beta-myosin heavy chain gene in Chinese patient with hypertrophic cardiomyopathy |
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| LUO Xiao-liang,WU Gui-xin,ZHANG Mo,WANG Li-mei,WANG Hu,WANG Ji-zheng,SONG Lei,YUAN Jian-song,QIAO Shu-bin,ZOU Yubao.Study of the relationship between phenotype and mutation of number 1382 amino acid in the cardiac beta-myosin heavy chain gene in Chinese patient with hypertrophic cardiomyopathy[J].Molecular Cardiology of China,2019(1):2738-2741. |
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| Authors: | LUO Xiao-liang WU Gui-xin ZHANG Mo WANG Li-mei WANG Hu WANG Ji-zheng SONG Lei YUAN Jian-song QIAO Shu-bin ZOU Yubao |
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| Institution: | (Department of Cardiology,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,100037,People's Republic of China;State Key Laboratory of Cardiovascular Disease,Fuwai Hospital,National Center for Cardiovascular Diseases,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,100037,People's Republic of China) |
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| Abstract: | LUO Xiao-liang;WU Gui-xin;ZHANG Mo;WANG Li-mei;WANG Hu;WANG Ji-zheng;SONG Lei;YUAN Jian-song;QIAO Shu-bin;ZOU Yubao(Department of Cardiology,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,100037,People's Republic of China;State Key Laboratory of Cardiovascular Disease,Fuwai Hospital,National Center for Cardiovascular Diseases,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,100037,People's Republic of China) |
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| Keywords: | hypertrophic cardiomyopathy gene mutation percutaneous transluminal septal myocardial ablation phenotype |
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