title: [Mutation analysis of beta myosin heavy chain gene in hypertrophic cardiomyopathy families].
abstract: OBJECTIVE
  To 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.
  
  
  METHODS
  Exons 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.
  
  
  RESULTS
  A 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.
  
  
  CONCLUSIONS
  The 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.
authors.affiliation: Experimental Research Center of Beijing Chaoyang Hospital, Capital Medical University, Beijing Key Laboratory of Respiratory and Pulmonary Circulation Disorders, Beijing 100020, P. R. China.
authors.forename: Xin-ping
authors.initials: XP
authors.lastname: Fan
authors.forename: Zhong-wei
authors.initials: ZW
authors.lastname: Yang
authors.forename: Xiu-li
authors.initials: XL
authors.lastname: Feng
authors.forename: Fu-hui
authors.initials: FH
authors.lastname: Yang
authors.forename: Bai
authors.initials: B
authors.lastname: Xiao
authors.forename: Yan
authors.initials: Y
authors.lastname: Liang
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D024722:Cardiac Myosins; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D018995:Myosin Heavy Chains / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains