Abstract: 【Abstract】 Objective To investigate the gene mutations of beta-myosin heavy chain gene (MYH7) in Chinese pedigrees with hypertrophic cardiomyopathy (HCM), and to explore the relationship between the genotype and phenotype．Methods Standard sequence was compared with the 3, 5, 7～9, 11～16, 18～23exons of MYH7 gene which were amplified and direct sequenced from 3 chinese pedigrees with HCM to find out the mutations. Results Analyses revealed that a missense mutation of Thr441Met in exon14 was identified in one pedigree,but not in the control group.Several synonymous mutations of MYH7 gene were detected in three pedigrees. Conclusions The mutation of Thr441Met, located in the actin binding of the globular head, was first identified in Chinese. It probably caused the HCM which was a heterogeneous disease. The results suggesting that a variety of factors were concerned with the development of HCM.

Key words: HCM、MYH7、gene