Xie Wen-li, Liu Wen-ling, Hu Da-yi, Cui We, Zhu Tian-gang, Li Cui-lan, Sun Yi-hong, Li Lei, Li Tian-chang, Bian Hong, Tong Qi-guang
Department of Cardiology, Second Hospital, Peking University, Beijing 100044, China.
Zhonghua Yi Xue Za Zhi. 2004 Oct 2;84(19):1610-3.
To study the disease-causing gene mutation in Chinese with hypertrophic cardiomyopathy (HCM), and to analyze the correlation between the genotype and phenotype.
Samples of peripheral blood were collected from five Chinese patients with HCM in whose families at least 2 HCM patients existed. The exon in the functional regions of the beta myosin heavy chain gene (beta-MHC) were amplified with PCR and the products were sequenced. The relation between the genotype and phenotype was analyzed.
Two mutations were first identified. Eighty controls were normal in the genetic test.
beta-MHC may be the main disease-causing gene. Two mutations have different phenotypes. In one family, the identical mutation has different phenotypes and prognoses. The heterogeneity of phenotype suggests that multiple factors be involved in the pathogenesis.
研究中国肥厚型心肌病（HCM）患者的致病基因突变情况，并分析基因型与表型之间的相关性。
从5名中国HCM患者中采集外周血样本，这些患者的家族中至少有2名HCM患者。采用聚合酶链反应（PCR）扩增β肌球蛋白重链基因（β-MHC）功能区的外显子，并对产物进行测序。分析基因型与表型之间的关系。
首次鉴定出两个突变。80名对照者的基因检测结果正常。
β-MHC可能是主要的致病基因。两个突变具有不同的表型。在一个家族中，相同的突变具有不同的表型和预后。表型的异质性表明发病机制涉及多种因素。
