Novel Val606Met mutation in beta myosin heavy chain gene in Chinese pedigrees with familiar hypertrophic cardiomyopathy.
- Author:
Qin TAO
1
;
Jun-Hua YANG
;
Dong-Dong ZHENG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aged; Asian Continental Ancestry Group; genetics; Base Sequence; Cardiomyopathy, Hypertrophic; genetics; Case-Control Studies; Exons; Female; Genotype; Humans; Male; Middle Aged; Mutation; Myosin Heavy Chains; genetics; Pedigree; Ventricular Myosins; genetics; Young Adult
- From: Chinese Journal of Cardiology 2007;35(11):992-995
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo screen the disease-causing gene mutation in Chinese patients with familiar hypertrophic cardiomyopathy (HCM) and to analyse the correlation between the genotype and phenotype.
METHODSEight Chinese pedigrees with HCM and 80 age-matched normal control subjects were studied. The exons in the functional regions of the beta myosin heavy chain gene (beta-MHC) were amplified with PCR and the products were sequenced. The relation between the genotype and phenotype was analyzed.
RESULTVal606Met mutation was identified in exon 16 in one family and Val606Met mutation was identified in 4 out of 8 family members in this pedigree and 3 out of 4 Val606Met carriers suffered from HCM. No similar mutation was identified in controls.
CONCLUSIONThe Val606Met mutation located at the actin-binding region of the cardiac beta-MHC gene is involved in the pathogenesis of HCM in this Chinese pedigree.
