肥厚型心肌病家族中β肌球蛋白重链基因的突变分析
[Mutation analysis of beta myosin heavy chain gene in hypertrophic cardiomyopathy families].
作者信息
Fan Xin-ping, Yang Zhong-wei, Feng Xiu-li, Yang Fu-hui, Xiao Bai, Liang Yan
机构信息
Experimental Research Center of Beijing Chaoyang Hospital, Capital Medical University, Beijing Key Laboratory of Respiratory and Pulmonary Circulation Disorders, Beijing 100020, P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Aug;28(4):387-92. doi: 10.3760/cma.j.issn.1003-9406.2011.04.006.
OBJECTIVE
To detect the gene mutations of beta-myosin heavy chain gene (MYH7) in Chinese pedigrees with hypertrophic cardiomyopathy (HCM), and to analyze the correlation between the genotype and phenotype.
METHODS
Exons 3, 5, 7-9, 11-16 and 18-23 of the MYH7 gene were amplified with PCR in three Chinese pedigrees with HCM. The products were sequenced. Sequence alignment between the detected and the standard sequences was performed.
RESULTS
A missense mutation of Thr441Met in exon 14 was identified in a pedigree, which was not detected in the controls. Several synonymous mutations of MYH7 gene were detected in the three pedigrees.
CONCLUSION
The mutation of Thr441Met, located in the actin binding domain of the globular head, was first identified in Chinese. It probably caused HCM. HCM is a heterogeneous disease. Many factors are involved in the process of its occurrence and development.
目的
检测中国肥厚型心肌病（HCM）家系中β-肌球蛋白重链基因（MYH7）的基因突变，并分析基因型与表型之间的相关性。
方法
采用聚合酶链反应（PCR）扩增三个中国HCM家系中MYH7基因的第3、5、7-9、11-16和18-23外显子。对产物进行测序。将检测序列与标准序列进行比对。
结果
在一个家系中鉴定出第14外显子Thr441Met的错义突变，对照组未检测到该突变。在三个家系中检测到MYH7基因的几个同义突变。
结论
位于球状头部肌动蛋白结合域的Thr441Met突变首次在中国被鉴定。它可能导致了HCM。HCM是一种异质性疾病。其发生和发展过程涉及许多因素。
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