Mutation analysis of beta myosin heavy chain gene in hypertrophic cardiomyopathy families.
- VernacularTitle:β-肌球蛋白重链基因与肥厚型心肌病临床表型关系的研究
- Author:
Xin-ping FAN
1
;
Zhong-wei YANG
;
Xiu-li FENG
;
Fu-hui YANG
;
Bai XIAO
;
Yan LIANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Amino Acid Sequence; Animals; Base Sequence; Cardiac Myosins; Cardiomyopathy, Hypertrophic; genetics; DNA Mutational Analysis; Female; Genotype; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation; Myosin Heavy Chains; chemistry; genetics; Pedigree; Phenotype
- From: Chinese Journal of Medical Genetics 2011;28(4):387-392
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect the gene mutations of beta-myosin heavy chain gene (MYH7) in Chinese pedigrees with hypertrophic cardiomyopathy (HCM), and to analyze the correlation between the genotype and phenotype.
METHODSExons 3, 5, 7-9, 11-16 and 18-23 of the MYH7 gene were amplified with PCR in three Chinese pedigrees with HCM. The products were sequenced. Sequence alignment between the detected and the standard sequences was performed.
RESULTSA missense mutation of Thr441Met in exon 14 was identified in a pedigree, which was not detected in the controls. Several synonymous mutations of MYH7 gene were detected in the three pedigrees.
CONCLUSIONThe mutation of Thr441Met, located in the actin binding domain of the globular head, was first identified in Chinese. It probably caused HCM. HCM is a heterogeneous disease. Many factors are involved in the process of its occurrence and development.
