Cardiac troponin i gene mutation (Asp127Tyr) in a Chinese patient with hypertrophic cardiomyopathy
Sheng, H.-z.; Shan, Q.-j.; Wu, X.; Cao, K.-j.
Zhonghua Xin Xue Guan Bing Za Zhi 36(12): 1063-1065
2008
ISSN/ISBN: 0253-3758 PMID: 19134270 Document Number: 618731
To observe the disease-causing gene mutation in Chinese patients with hypertrophic cardiomyopathy and to analyze the correlation between the genotype and the phenotype. 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. 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. 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.