Screening and analysis of the mutations on beta-myosin heavy chain gene in 3 Chinese families with hypertrophic cardiomyopathy
10.3760/cma.j.issn.0253-3758.2011.02.005
- VernacularTitle:家族性肥厚型心肌病MYH7基因突变的筛查与分析
- Author:
Xiu-Li FENG
1
;
Xin-Ping FAN
;
Zhong-Wei YANG
;
Fu-Hui YANG
Author Information
1. 新疆生产建设兵团农七师医院
- Keywords:
Cardiomyopathy,hypertrophic;
Myosin heavy chains;
Mutation
- From:
Chinese Journal of Cardiology
2011;39(2):110-113
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect gene mutations on beta-myosin heavy chain gene MYH7 in 3 Chinese families with hypertrophic cardiomyopathy ( HCM), and to analyze the correlation between genotype and phenotype. Methods A denaturing high-performance liquid chromatography (DHPLC) and sequencing mutation screening of the exons ( exon3-23 ) coding for MYH7 gene were performed in 3 Chinese families with HCM. Results In this study, we identified several mutations in MYHT. A mutation of Thr441 Met previously reported in a patient with Laing distal myopathy was first identified in one Chinese pedigree. Conclusion This study illustrated the high frequency of mutation in MYH7 gene in Chinese HCM families. Different mutations and carriers of the MYH7 gene present phenotypic heterogeneity. Mutation screening and analysis in HCM family could therefore facilitate the early HCM diagnosis and would be helpful for the prediction, prevention and early treatment of HCM linked with MYH7 gene mutation.
