Cardiac troponin I gene mutation (Asp127Tyr) in a Chinese patient with hypertrophic cardiomyopathy.
- Author:
Hong-zhuan SHENG
1
;
Qi-jun SHAN
;
Xiang WU
;
Ke-jiang CAO
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Cardiomyopathy, Hypertrophic; genetics; Case-Control Studies; DNA Mutational Analysis; Exons; Genotype; Humans; Male; Middle Aged; Mutation, Missense; Pedigree; Phenotype; Troponin I; genetics
- From: Chinese Journal of Cardiology 2008;36(12):1063-1065
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo observe the disease-causing gene mutation in Chinese patients with hypertrophic cardiomyopathy and to analyze the correlation between the genotype and the phenotype.
METHODSSpecimens 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.
RESULTSA 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.
CONCLUSIONA 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.
