家族性肥厚型心肌病β型肌凝蛋白重链基因突变研究  

Detectinq mutation of β-myosin heavy chain gene in familial hypertrophic cardiomyopathy.

作　　者：张之炯[1] 蒋冬贵 张修武[2] 雷蓓蕾[2] 郭兆贵[2] 

机构地区：[1]湖南医科大学附属湘雅医院,长沙410078 [2]湖南医科大学分子药理研究室

出　　处：《中国心血管杂志》1998年第2期80-83,共4页Chinese Journal of Cardiovascular Medicine

基　　金：国家自然科学基金资助

摘　　要：1990年Tanigawa等连续报道了β-MHC的错义突变与FHC有关,这些突变集中在β-MHC的10个外显子,即外显子5,9,13,14,15,16,19,20,21,23.本文设计了9对PCR引物,限制性扩增β-MHC基因突变集中发生的9个外显子,用两轮扩增提高扩增产量,两步扩增法提高扩增产物的特异性.产物在中性聚丙烯酰胺上电泳进行SSCP分析.对6个肥厚型心肌病家系进行了β-MHC突变分析,结果显示,6个肥厚型心肌病家系中无一个家系找到β-MHC突变,表明突变的机率比国外报道的明显的低.We designed nine pair primers to amplify restrictively the exon 9, 13, 14, 15, 16, 19. 20, 21, 23 of β-myosin heavy chain. The amplified products of polymerase chain reaction(PCR} which capture each of ten exons or β-MHC gene was used to identify the mutations ot β-MHC gene in six hypertrophic cardiomyopathy (HCM} kindreds using single -strand confirmation polymorphism (SSCP) gel analysis. The sequence of 9 primers and their conditions for PCR amplify and SSCP analysis were reported in this paper. A two - step amplify method was used to increase the specifisity of PCR amplifing. No mutation was found in the ten exons of β-MHC gene in six family of HCM. It indicated that the mutation of β-MHC gene could not be the main cause of MHC in Chinese Hans, or the mutation of β-MHC gene in Chinese HCM could not occur in the researched ten exons. or there is a lower frequency of β-MHC mutation in Chinese HCM patient.

关 键 词：肥厚型心肌病 肌凝蛋白重链 基因突变 

分 类 号：R542.2[医药卫生—心血管疾病]