肥厚型心肌病心肌β-肌球蛋白重链基因Gln893Lys突变

目的：研究中国人肥厚型心肌病致病基因-β-肌球蛋白重链基因（β-MHC），分析基因型与临床表型的关系．方法：在96例肥厚型心肌病患者及100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，双脱氧末端终止法测序．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4个家系及2例散发患者中，β—MHC基因第23号外显子的Gln893Lys错义突变，而正常对照组同一位置未见异常．4个家系临床表型不同．结论：β—MHC基因Gln893Lys突变是中国人肥厚型心肌病的致病突变之一，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．

Gln893Lys mutation in beta myosin heavy chain gene: a hot spot mutation in Chinese hypertrophic cardiomyopathy

AIM：To study the disease-causing gene mutation in Chinese suffering from hypertrophic cardiomyopathy （HCM） and to analyze the correlation between genotype and phenotype. METHODS： Ninety-six unrelated patients with HCM and 100 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 Gln893Lys missense mutation in the exon 23 of β- MHC gene in 4 families and 2 sporadic patients. The phenotypes of the 4 families were different. The 100 controls were normal in the genetic test. CONCLUSION： The Gln893Lys mutation may be one of causing mutations in Chinese HCM. The heterogeneity of phenotype suggests that multiple factors are involved in the pathogenesis of HCM.