OBJECTIVETo study cardiac troponin T (TNNT2) gene mutations in Chinese patients with hypertrophic cardiomyopathy (HCM) and analyze the correlation between the genotype and phenotype.

METHODSNinety-five unrelated Chinese patients with HCM and 120 control individuals were screened for TNNT2 gene mutations. Seven exons (8, 9, 10, 11, 14, 15, and 16) in the functional regions of TNNT2 gene were amplified using PCR and the products were sequenced. The patients with positive results underwent further family screening.

RESULTS AND CONCLUSIONThis study did not find any HCM-caused mutations in TNNT2 gene, a result different from the reported rates of TNNT2 gene mutation ranging from 10% to 20% in other nations, suggesting that TNNT2 gene is not a susceptible gene for HCM in Chinese population.