新疆3个HCM家系MYH7基因突变DHPLC检测和DNA测序结果分析

基础医学与临床 ›› 2012, Vol. 32 ›› Issue (12): 1437-1441.

新疆3个HCM家系MYH7基因突变DHPLC检测和DNA测序结果分析

杨忠伟¹,冯秀丽²,王伟³,王忠⁴

1. 新疆石河子大学医学院教学实习基地奎屯农七师医院
2. 新疆生产建设兵团农七师医院检验科
3. 石河子大学医学院
4. 石河子大学医学院第一附属医院

收稿日期:2011-12-23 修回日期:2012-05-29 出版日期:2012-12-05 发布日期:2012-11-28
通讯作者: 王忠 E-mail:yzwktk@sina.com
基金资助:
新疆生产建设兵团医药卫生科技攻关计划项目课题

DHPLC MYH7 gene mutation detection and analysis of DNA sequencing in 3 HCM families in Xinjiang

Received:2011-12-23 Revised:2012-05-29 Online:2012-12-05 Published:2012-11-28

摘要/Abstract

摘要： 目的研究家族性肥厚型心肌病hypertrophic cardiomyopathy, HCM的主要致病基因β肌球蛋白重链beta-myosin heavy chain gene, MYH7突变情况。方法用变性高效液相色谱DHPLC检测和DNA测序方法对3个HCM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。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, 该突变在中国人中是首次发现，此外外显子8也存在一个点突变。另外两个家系也发现有不同位点的突变。结论运用变性高效液相色谱技术和DNA直接测序技术能实现对家族性肥厚型心肌病MYH7基因突变的筛查，有利于早期诊断、患病风险预测。

关键词: 家族性肥厚型心肌病、β肌球蛋白重链、基因突变

Abstract: 【Abstract】 Objective To investigate the gene mutations of beta-myosin heavy chain gene (MYH7) in Chinese pedigrees with hypertrophic cardiomyopathy (HCM), and to explore the relationship between the genotype and phenotype．Methods Standard sequence was compared with the 3, 5, 7～9, 11～16, 18～23exons of MYH7 gene which were amplified and direct sequenced from 3 chinese pedigrees with HCM to find out the mutations. Results Analyses revealed that a missense mutation of Thr441Met in exon14 was identified in one pedigree,but not in the control group.Several synonymous mutations of MYH7 gene were detected in three pedigrees. Conclusions The mutation of Thr441Met, located in the actin binding of the globular head, was first identified in Chinese. It probably caused the HCM which was a heterogeneous disease. The results suggesting that a variety of factors were concerned with the development of HCM.

Key words: HCM、MYH7、gene

杨忠伟冯秀丽王伟王忠. 新疆3个HCM家系MYH7基因突变DHPLC检测和DNA测序结果分析[J]. 基础医学与临床, 2012, 32(12): 1437-1441.