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目的研究β-肌球蛋白重链基因(MYH-7)在中国扩张型心肌病(DCM)患者中的突变情况。方法对81例DCM患者(其中8例为家族性DCM先证者)进行MYH-7基因突变扫描,聚合酶链反应分别扩增MYH-7基因功能区的15个外显子片段,双脱氧末端终止法测序。结果在所有DCM患者中未检出MYH-7的致病突变,仅在1例散发性DCM患者的7号外显子检出同义突变。结论MYH-7可能不是中国DCM患者的主要致病侯选基因。
Objective To investigate the mutation of β-myosin heavy chain gene (MYH-7) in patients with dilated cardiomyopathy (DCM) in China. Methods MYH-7 gene mutation was screened in 81 cases of DCM patients (8 cases were familial DCM probands). Fifteen exon fragments of MYH-7 gene function region were amplified by polymerase chain reaction Termination method sequencing. Results No disease-causing mutations in MYH-7 were detected in all DCM patients, and synonymous mutations in exon 7 of only 1 patient with sporadic DCM were detected. Conclusion MYH-7 may not be the main pathogenic candidate gene in patients with DCM in China.