ABSTRACT
Objective To identify the disease-causing gene mutation and investigate the genotypephenotype correlation in a Chinese pedigree with familial hypertrophic cardiomyopathy.Methods In this study we collected a large multigenerational Chinese family with FHCM.Total genome DNA was extracted from 67 subjects' peripheral leucocytes.The exons and boundary introns of MYH7 gene was amplified by PCR and directly sequenced by ABI PRISM 3700 DNA sequencer.Then,the mutation was examined.Results Fourteen family members had hypertrophic cardiomyopathy,including 4 deceased 2 of whom died from sudden death at young age.Analysis by echocardiography showed all the 10 living affected individuals have a maximal leftventricular-wall thickness of at least 13 mm.Three single nucleotide polymorphisms (SNP) which had been reported in NCBI SNP database,were found mutated.No mutation co-seperated with the disease was identified.Conclusion FHCM of this family was not caused by MYH7 mutation.Other genes should be screened to further identify the disease-causing gene mutation in hypertrophic cardiomyopathy.