Abstract: To explore the diseasecausing gene mutation in Chinese patients with hypertrophic cardiomyopathy (HCM), and to analyze the correlation between the genotype and the phenotype．Methods: The exons 1516, 18, 26, 28 and 34 of cardiac myosin binding proteinC gene in 76 patients with hypertrophic cardiomyopathy were amplified by PCR, and the PCR products were underwent SSCP analysis. If any abnormal band was detected on the gel, the suspicious PCR products were sequenced to detect the exact mutant point．One hundred normal persons were used as controls. Results: A frame shift mutation，Arg856fs mutation，in the exon 26 of the MYBPC3 gene was identified in a 52yearold male patient with HCM and failed to be detected in the 100 normal controls，which suggested the diseasecausing mutation． Conclusion: Cardiac myosin binding proteinC (MYBPC3) may be one of the main diseasecausing genes.

Key words: Cardiomyopathy hypertrophic, Cardiac myosin binding proteinC, Genes, Mutation