论文部分内容阅读
目的观察肥厚型心肌病(HCM)患者心脏型肌球蛋白结合蛋白C基因(MYBPC3)缺失突变及其表型的特点。方法在100例HCM患者中对MYBPC3的所有外显子及其侧翼内含子序列进行基因扫描,聚合酶链反应(PCR)扩增目的片段,双脱氧末段终止法测序。对突变患者进行家系调查,分析其表型特点。结果在两例先证者中分别发现两个缺失突变14262_14264delAAG和14364delG,均位于外显子25。表型分析发现两例先证者均有劳力性胸闷、胸痛和晕厥史,超声心动图表现为不对称性肥厚(室间隔/左室后壁分别为2.5、3.2),但SAM征阴性,发病年龄分别为38岁和29岁。结论缺失突变是MYBPC3基因突变的常见形式,14262_14264delAAG或14364delG突变导致的HCM表现为不对称性心肌肥厚,患者容易出现晕厥等症状,应该警惕心源性猝死的发生。
Objective To observe the deletion and the phenotype of cardiac myosin binding protein C gene (MYBPC3) in patients with hypertrophic cardiomyopathy (HCM). Methods All exons and their flanking intron sequences of MYBPC3 were genotyped in 100 patients with HCM. PCR was used to amplify the target fragments and dideoxy end-stop sequencing. Family history of patients with mutations, analysis of its phenotypic characteristics. Results Two deletion mutations, 14262_14264delAAG and 14364delG, were found in two probands, all located in exon 25. Phenotypic analysis found that two cases of probands had labor chest tightness, chest pain and history of syncope, echocardiography showed asymmetric hypertrophy (ventricular septum / left ventricular wall were 2.5, 3.2), but SAM sign negative, the incidence The ages are 38 and 29 respectively. CONCLUSION: The deletion mutation is a common form of MYBPC3 gene mutation. HCM caused by 14262_14264delAAG or 14364delG mutation appears asymmetric myocardial hypertrophy, and patients are prone to syncope and other symptoms. Therefore, we should be alert to the occurrence of sudden cardiac death.