Cardiac troponinⅠgene mutation (Asp127Tyr)in a Chinese patient with hypertrophic cardiomyopathy
10.3321/j.issn:0253-3758.2008.12.003
- VernacularTitle:心肌肌钙蛋白Ⅰ基因Asp127Tyr突变与肥厚型心肌病
- Author:
Hong-Zhuan SHENG
1
;
Qi-Jun SHAN
;
Xiang WU
;
Ke-Jiang CAO
Author Information
1. 南通大学附属医院
- Keywords:
Cardiomyopathy,hypertrophic;
Troponin I;
Genes;
Mutation
- From:
Chinese Journal of Cardiology
2008;36(12):1063-1065
- CountryChina
- Language:Chinese
-
Abstract:
Objeetive 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?gene were screened with PCR and direct sequencing technique.Results A missense mutation in the exon 7 of the cardiac troponin?gene Was identified in a 40-year-old male patient with hypertrophic cardiomyopathy (Asp127Tyr)which was absent in the controls.Conclusion A novel missense mutation of cardiac troponin?was identified in a patient with hypertrophic cardiomyopathy,this mutation might be the disease-causing gene mutation in this Chinese patient.
