用变性高效液相色谱检测和脱氧核糖核酸测序方法对三个肥厚型心肌病家系β肌球蛋白重链基因突变的分析结果  

β-Myosin Heavy Chain Mutation in 3 Families With Hypertrophic Cardiomyopathy by DHPLC Spectrum and DNA Sequencing Analysis

作　　者：杨忠伟[1] 徐艳萍[1] 冯秀丽[1] 邱建军[1] 王战勇[2] 肖白[2] 

机构地区：[1]新疆生产建设兵团农七师医院心内科,833200 [2]首都医科大学附属北京朝阳医院实验研究中心北京市呼吸和肺循环疾病重点实验室

出　　处：《中国循环杂志》2011年第6期442-445,共4页Chinese Circulation Journal

摘　　要：目的:研究家族性肥厚型心肌病(HCM)的主要致病基因β肌球蛋白重链(MYH7)基因突变情况。方法:用变性高效液相色谱(DHPLC)检测和脱氧核糖核酸(DNA)测序方法对三个肥厚型心肌病家系成员的MYH7基因8、14外显子及附近上下游序列进行检测分析;另选正常对照者50例。结果:三个家系其中一个家系发现MYH7基因14外显子中存在Thr441Met突变,外显子8也存在一个点突变。另外两个家系均存在外显子8的C到T的突变,但表型不一。其中一个家系还存在内含子13和19的多态位点。此外,三个家系MYH7基因第3外显子均发现同义突变。结论:MYH7基因在肥厚型心肌病家系中具有较高的突变率。运用变性高效液相色谱技术,能够快速有效的进行基因突变筛查。Objective ：To study β-myosin heavy chain gene （MYH7） mutation, which is the major causative gene of family hypertrophic cardiomyopathy （HCM）. Methods：We collected 6 HCM patients from 3 families with the age of 39 ~ 47 years, and took 50 persons with the similar age as normal control. A denaturing high performance liquid chromatography （DHPLC） spectrum and DNA sequencing were performed to examine the MYH7 gene mutation. Results： We found MYH7 gene exon 14 mutation of Thr441 Met, and identified another mutation in exon 8 in one family. There were exon 8 mutation of C to G with phenotypic heterogeneity in another two families, one of them had polymorphism at in- tron 13 and intron 19. In addition, there were exon 3 mutation in all three families. Conclusion： Our study indicates that HCM patients have high incidence of MYH7 gene mutation in their families. DHPLC could effectively and quickly screen those mutations.

关 键 词：家族性肥厚型心肌病 Β肌球蛋白重链 基因突变 

分 类 号：R541[医药卫生—心血管疾病]