Gln893Lys mutation in beta myosin heavy chain gene: a hot spot mutation in Chinese hypertrophic cardiomyopathy
AIM: To study the disease-causing gene mutation in Chinese suffering from hypertrophic cardiomyopathy (HCM) and to analyze the correlation between genotype and phenotype. METHODS: Ninety-six unrelated patients with HCM and 100 controls were chosen for the study. The exons in the functional regions of the β-myosin heavy chain (β-MHC) gene were amplified with PCR and the products were sequenced. The relation between genotype and phenotype was analyzed. RESULTS: We identified an Gln893Lys missense mutation in the exon 23 of β-MHC gene in 4 families and 2 sporadic patients. The phenotypes of the 4 families were different. The 100 controls were normal in the genetic test. CONCLUSION: The Gln893Lys mutation may be one of causing mutations in Chinese HCM. The heterogeneity of phenotype suggests that multiple factors are involved in the pathogenesis of HCM.
hypertrophic cardiomyopathyβ-myosin heavy chainmutation, missensephenotype
NETL
NSTL
万方数据
维普
