Cardiac troponin I gene mutation (Asp127Tyr) in a Chinese patient with hypertrophic cardiomyopathy / 中华心血管病杂志

ABSTRACT

<p><b>OBJECTIVE</b>To observe the disease-causing gene mutation in Chinese patients with hypertrophic cardiomyopathy and to analyze the correlation between the genotype and the phenotype.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>