| 家族性肥厚型心肌病患者MYBPC3基因突变筛查 |
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| 引用本文： | 孔德华,王爱玲,陈多学,余元勋.家族性肥厚型心肌病患者MYBPC3基因突变筛查[J].临床心血管病杂志,2010,26(2). |
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| 作者姓名： | 孔德华 王爱玲 陈多学 余元勋 |
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| 作者单位： | 1. 安徽医科大学第一附属医院心内科,合肥,230022
2. 安徽省优生优育医学遗传中心 |
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| 摘 要： | 目的:研究中国汉族人群家族性肥厚型心肌病(FHCM)患者的致病基因突变位点,分析其基因型与表型关系。方法:对6个家系先证者行肌球连接蛋白-C基因(MYBPC3)筛查,聚合酶链反应扩增其MYBPC3基因13、15-16、26、及27号功能区外显子片断,双脱氧末端终止法测序。对阳性结果者家系中其他成员及健康对照组同一位置筛查,分析患者基因型及临床表型特点。结果:在2个家系中,同时发现MYBPC3基因Val896Met杂合突变,而健康对照组同一位置未见异常,2家系中共6人携带此突变,其中发病5例;该突变可能为我国汉人FHCM家系中首次发现。结论:MYBPC3是我国汉族FHCM患者的常见致病基因;MYBPC3基因Val896Met突变所致肥厚型心肌病外显率高、临床症状出现较晚、进展缓慢、出现明显年龄依赖性特点,为一种良性突变。
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| 关 键 词： | 心肌病 肥厚型 家族性 肌球连接蛋白-C基因 突变 基因型 表现型 |
A molecular screening strategy based on cardiac myosin binding protein C genes in China patients with familial hypertrophic cardiomyopathy |
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| KONG Dehua,WANG Ailing,CHEN Duoxue,YU Yuanxun.A molecular screening strategy based on cardiac myosin binding protein C genes in China patients with familial hypertrophic cardiomyopathy[J].Journal of Clinical Cardiology,2010,26(2). |
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| Authors: | KONG Dehua WANG Ailing CHEN Duoxue YU Yuanxun |
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| Institution: | 1Department of Cardiogy/a>;the First Affiliated Hospital of Anhui Medical University/a>;Hefei/a>;230022/a>;China/a>;2the Center of Medical Genetics of Anhui Province |
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| Abstract: | Objective:Familial hypertrophic cardiomyopathy (FHCM) is a form of cardiomyopathy with an autosomal dominant inherited disease,which is caused by mutations in at least one of the sarcomeric protein genes. Mutations in the myosin binding protein C genes (MYBPC3) are the more common cause of HCM. This study was to reveal the disease-causing gene mutations in Chinese population with FHCM,and to analyze the correlation between the genotype and phenotype. Method:We sequenced exons 13,15-16,26 and 27 of the MYBPC... |
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| Keywords: | cardiomyopathy hypertrophic familial myosin binding protein C mutation genotype phenotype |
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