[一个中国家族性肥厚型心肌病家族中的人类β肌球蛋白重链Val606Met突变]

[The Val606Met mutation of human beta myosin heavy chain in a Chinese familial hypertrophic cardiomyopathy family].

作者信息

Yuan Jian-song, Qiao Shu-bin, Wang Shu-xia, Teng Si-yong, You Shi-jie, Yang Wei-xian, Gao Run-lin, Chen Ji-lin, Yang Yue-jin

机构信息

Coronary Heart Disease Center, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China.

出版信息

Zhonghua Xin Xue Guan Bing Za Zhi. 2008 Apr;36(4):313-6.

PMID:19100006

Abstract

OBJECTIVE

To explore the disease-causing gene mutation in Chinese families with hypertrophic cardiomyopathy (HCM) and to analyze the correlation between the genotype and phenotype.

METHODS

Samples of peripheral blood were collected from three Chinese families with HCM (at least two HCM patients existed/family). The exons in the functional regions of the beta myosin heavy chain gene (MYH7) were amplified with PCR and the products were sequenced.

RESULTS

A Val606Met missen mutation was identified in the exon 16 of MYH7 gene in a Chinese family and this mutation was identified in all HCM patients (n = 4) and there was also a 15-years-old young mutation carrier who was not HCM patient now (penetrance of 80%). This mutation was not identified in other healthy family members in this family, in other 2 Chinese familiar HCM families and in 120 non-HCM control patients.

CONCLUSION

The Val606Met missen mutation is closely associated with familiar HCM in a Chinese family which is associated with clinical phenotype with a penetrance of 80%.

摘要

目的

探索中国肥厚型心肌病（HCM）家系中的致病基因突变，并分析基因型与表型之间的相关性。

方法

采集三个中国HCM家系（每个家系至少有两名HCM患者）的外周血样本。采用聚合酶链反应（PCR）扩增β肌球蛋白重链基因（MYH7）功能区的外显子，并对产物进行测序。

结果

在一个中国家系的MYH7基因第16外显子中鉴定出一个Val606Met错义突变，该突变在所有HCM患者（n = 4）中均被检测到，并且还有一名15岁的年轻突变携带者，其目前不是HCM患者（外显率为80%）。在该家系的其他健康家庭成员、其他2个中国HCM家系以及120名非HCM对照患者中均未检测到该突变。