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目的 研究强直性肌营养不良 (简称DM )的肌张力蛋白激酶 (DMPK)基因中三核苷酸CTG(胞嘧啶、胸腺嘧啶、乌嘌啉 )重复数与DM病人心电图变化的关系。方法 经临床及用长模板扩增TMPCR法对 3个DM家系共 37个受检者进行检测 ,其中 2 5例确诊DM病人 ;1例可疑DM病人 ;余 11名家系成员属DM家系中正常人 ,在检测同时作心电图记录。结果 2 5例DM病人中心电图异常 2 0例 (80 % ) ,11名家系正常人中心电图异常 1例 (9% ) ,1例可疑DM病人的心电图正常 ,DM病人心电图异常率明显高于正常人 ,2 0例DM病人心电图异常主要表现为心脏传导障碍 ,而且心电图异常与DM基因CTG重复数有关 ,CTG数高者其心电图变化明显。结论 DM病人心脏受累明显增高 ,CTG重复数检测或许可提示心脏传导障碍的发生与程度。
Objective To investigate the relationship between CTG (cytosine, thymidine, and guanidine) repeats and the changes of electrocardiogram (ECG) in diabetic patients with dystonia muscular dystrophy (DM). Methods TMPCR was used to detect 37 subjects in 3 DM families by clinical and long template amplification. Among them, 25 cases were diagnosed with DM and 1 case was suspected DM. The remaining 11 families were normal in DM family , At the same time testing for ECG records. Results 20 cases (80%) had electrocardiogram abnormalities in 25 cases of DM patients and 1 case (9%) had electrocardiogram abnormalities in 11 cases of normal subjects. The electrocardiogram of 1 suspected DM patients was normal, the abnormal rate of electrocardiogram was significantly higher in DM patients People, 20 cases of DM patients ECG abnormalities mainly manifested as cardiac conduction disorders, and ECG abnormalities and DM gene CTG repeat number, high CTG ECG changes were significant. Conclusion Cardiac involvement in DM patients was significantly higher. The detection of CTG repeat may be able to prompt the occurrence and extent of cardiac conduction disorders.