肥厚型心肌病心肌β-肌球蛋白重链基因Gln893Lys突变
Gln893Lys mutation in beta myosin heavy chain gene: a hot spot mutation in Chinese hypertrophic cardiomyopathy
刘刚 1盛红专1
作者信息
- 1. 余姚市人民医院心血管内科,浙江,余姚,315400
- 折叠
摘要
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凋查,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Gin893Lys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.
Abstract
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.
关键词
肥厚型心肌病/β-肌球蛋白重链/突变/错义/表型Key words
hypertrophic cardiomyopathy/β-myosin heavy chain/mutation, missense/phenotype引用本文复制引用
出版年
2009
NETL
NSTL
维普
万方数据