title: [Cardiac troponin I gene mutation (Asp127Tyr) in a Chinese patient with hypertrophic cardiomyopathy].
abstract: OBJECTIVE
  To observe the disease-causing gene mutation in Chinese patients with hypertrophic cardiomyopathy and to analyze the correlation between the genotype and the phenotype.
  
  
  METHODS
  Specimens of peripheral blood were collected and the genome DNA was extracted in 65 unrelated patients with hypertrophic cardiomyopathy and 60 normal controls. The exon 7 and 8 of cardiac troponin I gene were screened with PCR and direct sequencing technique.
  
  
  RESULTS
  A missense mutation in the exon 7 of the cardiac troponin I gene was identified in a 40-year-old male patient with hypertrophic cardiomyopathy (Asp127Tyr) which was absent in the controls.
  
  
  CONCLUSIONS
  A novel missense mutation of cardiac troponin I was identified in a patient with hypertrophic cardiomyopathy, this mutation might be the disease-causing gene mutation in this Chinese patient.
authors.affiliation: Department of Cardiology, Affiliated Hospital of Nantong University, Nantong 226001, China.
authors.forename: Hong-zhuan
authors.initials: HZ
authors.lastname: SHENG
authors.forename: Qi-jun
authors.initials: QJ
authors.lastname: SHAN
authors.forename: Xiang
authors.initials: X
authors.lastname: WU
authors.forename: Ke-jiang
authors.initials: KJ
authors.lastname: CAO
mesh_terms: D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005091:Exons; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D019210:Troponin I / Q000235:genetics*
chemical_list: D019210:Troponin I