在中国一个肥厚型心肌病家系的心肌肌球蛋白结合蛋白C基因中鉴定出一种移码突变，即Arg346fs突变。
[A frame shift mutation, Arg346fs mutation, is identified in cardiac myosin-binding protein C gene in a Chinese family with hypertrophic cardiomyopathy].
作者信息
Xie Wen-li, Liu Wen-ling, Hu Da-yi, Cui Wei, Zhu Tian-gang, Li Cui-lan, Sun Yi-hong, Li Lei, Bian Hong
机构信息
Department of Cardiology, Second Hospital of Hebei Medical University, Shijiazhuang 050000, China.
出版信息
Zhonghua Yi Xue Za Zhi. 2005 Apr 13;85(14):963-6.
OBJECTIVE
To explore the disease-causing gene mutation in Chinese with hypertrophic cardiomyopathy (HCM).
METHODS
The peripheral venous blood samples were collected from 5 HCM families without consanguinity, including 5 probands, 2 males and 3 females, 28 sporadic HCM patients, 18 males and 10 females, and 80 healthy controls. The exons in the functional regions of cardiac myosin-binding protein C (MYBPC3) were amplified with PCR and the amplified products were sequenced.
RESULTS
A frame shift mutation-Arg346fs mutation in exon 13, the first mutation identified in Chinese-was discovered in one family with HCM. However, the members of the same HCM family with the Arg346fs mutation showed differences in phenotype and prognosis.
CONCLUSION
Cardiac myosin-binding protein C (MYBPC3) may be one of the main disease-causing genes. The heterogeneity of phenotype suggests that multiple factors may be involved in the pathogenesis.
目的
探索中国肥厚型心肌病（HCM）患者的致病基因突变。
方法
采集5个无血缘关系的HCM家系的外周静脉血样本，包括5名先证者（2名男性和3名女性）、28例散发HCM患者（18名男性和10名女性）以及80名健康对照者。采用聚合酶链反应（PCR）扩增心肌肌球蛋白结合蛋白C（MYBPC3）功能区的外显子，并对扩增产物进行测序。
结果
在一个HCM家系中发现了第13外显子的移码突变——Arg346fs突变，这是在中国首次鉴定出的突变。然而，具有Arg346fs突变的同一HCM家系成员在表型和预后方面存在差异。
结论
心肌肌球蛋白结合蛋白C（MYBPC3）可能是主要致病基因之一。表型的异质性表明发病机制可能涉及多种因素。
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