【摘要】 目的探讨β-肌球蛋白重链(βMHC)基因点突变与肥厚型心肌病(HCM)及扩张型心肌病(DCM)发病的关系。方法选择56例原发性心肌病病人(HCM13例,DCM43例)及53例健康对照,应用聚合酶链反应(PCR)限制性扩增心脏β-肌球蛋白重链基因第13、14外显子,用DdeⅠ、NⅠaⅢ限制性内切酶酶解其扩增产物,分析有无8848位及9124位点突变。结果 1例扩张型心肌病病人出现8848位点突变应产生的394bp片段,提示该病人可能存在8848位点突变。HCM病人未发现突变。结论β-肌球蛋白重链基因可能是DCM遗传易感性的基因标志之一。更多还原

【Abstract】 Objective To determine the association between cardiac β - myosin heavy chain (MHC) gene and hy-pertrophic cardiomyopatby (HCM) and dilated cardiomyopathy (DCM) . Method The exons 13114 of cardiac β - myosin heavy chain (MHC) gene from 13 Chinses patients with hypertrophic cardiomyopathy (HCM) and 43 patients with dilated cardiomyopathy (DCM) were amplified restrictively by using polymerase chain reaction (PCR) . The amplified products of PCR were digested by restrictive endonuclease Dde Ⅰ and N Ⅰ a Ⅲ to identify the mutations at No. 8848 and 9124 necleotide of β - MHC gene. Result One patient with DCM may exist mutation in necleotide 8848 of cardiac β - MHC gene. No mutation was found in the exons 13114 of cardiac β - MHC gene in 13 patients with HCM. Conclusion The cardiac β - myosin heavy chain gene may be one of the genetic risk factors for DCM in Chinese population.更多还原