家族性肥厚型心肌病myh7、mybpc3基因突变的综合研究-comprehensive study on mutations of my h7 and my bpc 3 genes in familial hypertrophic cardiomyopathy.docxVIP

Objective: This study was to reveal the disease-causing gene mutations in Chinese population with FHCM, and to analyze the correlation between the genotype and phenotype.Methods : We sequenced exons 13、15-16、26、and 27 of the MYBPC3 andexons3-26 of the MYH7 gene in 6 families with HCM from the region of Anhui province in China．Genomic DNA was amplified, and fragments were directly sequenced. Each DNA variant found in the patients was also analyzed in 80 healthy controls through automatic sequencing.Results: Three different mutations （ Arg723Gly and Ile736Thr in exon 20, Arg663His in exon 18）