β-肌球蛋白重链基因Ala26Val突变——中国人肥厚型心肌病热点突变

Ala26Val mutation in beta myosin heavy chain gene: a hot spot mutation in Chinese hypertrophic cardiomyopathy

目的 研究中国人肥厚型心肌病致病基因 ,分析基因型与临床表型的关系。方法 在86例肥厚型心肌病患者及 12 0例正常对照中进行 β 肌球蛋白重链 (β MHC)基因扫描 ,聚合酶链反应(PCR)扩增其功能区的外显子片段 ,双脱氧末段终止法测序。对阳性结果者进行家系调查 ,收集临床资料 ,分析其临床表型。结果 在 3个家系及 1例散发患者中发现 β MHC基因第 3号外显子的Ala2 6Val错义突变 ,正常对照组同一位置未见异常。 3个家系临床表型不同。结论 β MHC基因Ala2 6Val突变是中国人肥厚型心肌病的热点突变 ,其临床表型的异质性 ,提示多因素参与了肥厚型心肌病的发生和发展。

Objective To study the disease causing gene mutation in Chinese suffering from hypertrophic cardiomyopathy(HCM) and to analyze the correlation between genotype and phenotype Methods Eighty six unrelated patients with HCM and 120 controls were chosen for the study The exons in the functional regions of the β myosin heavy chain (β MHC) gene were amplified with PCR and the products were sequenced The relation between genotype and phenotype was analyzed Results We identified an Ala26Val missense mutation in the exon 3 of β MHC gene in three families and one sporadic patient The phenotypes of the three families were different The 120 controls were normal in the genetic test Conclusions The Ala26Val mutation may be the hot spot mutation in Chinese HCM. The heterogeneity of phenotype suggests that multiple factors are involved in the pathogenesis of HCM