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.docx

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）in MYH7 gene in three families and One mutation ofVal896Met in two Chinese families with FHCM was detected. The mutation of Val896Met was reported for the first time in China. There was no obstruction in the left ventricular outflow tract in all patients. In five families, a total of 16 individuals were diagnosed HCM and 1 of them were healthy man. The DNA variant was not detected in 80 healthy controls.Conclusions: 1. The genes of MYH7 and MYBPC3 are most common sarcomeric genes involved in China families with HCM. 2. Exon 20 and 18 may be the frequent disease-causing exons in MYH7 gene in FHCM of Anhui area. 3. The mutation of V896M in MYBPC3 is a benign type. Moreover, the heart function of the people evidently more deteriorative when their age are more older. The mutation has been reported in the first in China.Key wordsCardiomyopathy, hypertrophic, familial / ?- myosin heavy chain gene / myosin binding protein C / Mutation / Genotype / Phenotype英文缩略词表英文缩写FHCM英文全称Familial hypertrophic cardiomyopathy中文全称家族性肥厚型心肌病HCM?-MHCHypertrophic cardiomyopathy?-myosin heavy chain肥厚型心肌病?-肌球蛋白重链MYH7 MYBPC MYBPC3 TNNT2TNNT3?-myosin heavy chain gene Myosin-binding protein C Myosin-binding protein C geneCardiac troponin TCardiac troponin I?-肌球蛋白重链基因 肌球连接蛋白-C 肌球连接蛋白-C 基因 心脏型肌钙蛋白-T 心脏型肌钙蛋白-IPCR EDTA dNTPntNYHAPolymerase chain reaction Ethylene diamine tetraacetic acidDeoxyribonucleosid