汉族家族性肥厚型心肌病MYH7基因突变及相应临床特征  

Analysis of MYH7 gene mutations in Chinese pedigrees with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype

作　　者：杨春[1] 王爱玲[1] 余元勋[2] 徐岩[1] 冯俊[1] 史学功[1] 

机构地区：[1]安徽医科大学第一附属医院心内科,合肥230022 [2]安徽省优生优育遗传医学中心,合肥230061

出　　处：《安徽医科大学学报》2008年第3期336-339,共4页Acta Universitatis Medicinalis Anhui

摘　　要：目的研究中国汉族人群家族性肥厚型心肌病的致病相关基因,寻求新突变位点,并分析基因型与表型的关系。方法对3个无血缘关系的汉族家族性肥厚型心肌病家系先证者的β肌球蛋白重链(MYH7)基因,聚合酶链反应扩增其外显子片段,双脱氧末端终止法直接测序,克隆测序法确证,并分析各突变患者相应临床表型特点。结果在一家系中发现MYH7基因nt2013c缺失、nt2025C插入,为一国内罕见移码突变,其为该家系患者间遗传相关的致病相关基因突变。结论MYH7基因突变是我国汉族家族性肥厚型心肌病相关病因之一,其某些突变可在同一家系内遗传并致病,所致肥厚型心肌病外显率较低、临床症状出现较晚、进展较慢。同一突变携带者的临床表型存在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 in Han Chinese patients with hypertrophic cardiomyopathy （HCM） and to analyze the correlation of genotype and phenotype. Methods Three Chinese pedigrees with HCM and 30 age-matched normal control subjects were chosen for the study. The exons in the functional regions of the β- myosin heavy chain gene were amplified with PCR and the products were sequenced, genotyped, and phenotype analyzed. Results the nt2013 C reduce and nt2025 C insert in β-myosin heavy chain gene were identified in exonl8 in one pedigree. Conclusions MYH7 mutations are associated with HCM in the Han Chinese and identical mutation might result in different phenotypes, which suggests that multiple factors might be involved in the pathogenesis of familiar HCM.

关 键 词：心肌病 肥厚型 家族性 汉族 肌球蛋白类/遗传 学 突变 基因型 

分 类 号：R394[医药卫生—医学遗传学] R394.2[医药卫生—基础医学]