title: [Mutations in beta myosin heavy chain gene: two mutations in Chinese with familial hypertrophic cardiomyopathy and the correlation between the genotype and phenotype].
abstract: OBJECTIVE
  To study the disease-causing gene mutation in Chinese with hypertrophic cardiomyopathy (HCM), and to analyze the correlation between the genotype and phenotype.
  
  
  METHODS
  Samples of peripheral blood were collected from five Chinese patients with HCM in whose families at least 2 HCM patients existed. The exon 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.
  
  
  RESULTS
  Two mutations were first identified. Eighty controls were normal in the genetic test.
  
  
  CONCLUSIONS
  beta-MHC may be the main disease-causing gene. Two mutations have different phenotypes. In one family, the identical mutation has different phenotypes and prognoses. The heterogeneity of phenotype suggests that multiple factors be involved in the pathogenesis.
authors.affiliation: Department of Cardiology, Second Hospital, Peking University, Beijing 100044, China.
authors.forename: Wen-li
authors.initials: WL
authors.lastname: Xie
authors.forename: Wen-ling
authors.initials: WL
authors.lastname: Liu
authors.forename: Da-yi
authors.initials: DY
authors.lastname: Hu
authors.forename: We
authors.initials: W
authors.lastname: Cui
authors.forename: Tian-gang
authors.initials: TG
authors.lastname: Zhu
authors.forename: Cui-lan
authors.initials: CL
authors.lastname: Li
authors.forename: Yi-hong
authors.initials: YH
authors.lastname: Sun
authors.forename: Lei
authors.initials: L
authors.lastname: Li
authors.forename: Tian-chang
authors.initials: TC
authors.lastname: Li
authors.forename: Hong
authors.initials: H
authors.lastname: Bian
authors.forename: Qi-guang
authors.initials: QG
authors.lastname: Tong
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People; D024722:Cardiac Myosins; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics*; D002648:Child; D002681:China / Q000208:ethnology; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains