强直性肌营养不良症患者的CTG重复次数与心电图改变的关系

The relationship between CTG repeat frenquency and the change of ECG in the patients with myotonic dystrophy

目的 研究强直性肌营养不良 (DM)症患者的肌强直蛋白激酶 (MTPK )基因中胞嘧啶、胸腺嘧啶、鸟嘌呤 (CTG)三核苷酸重复次数与 DM病人心电图改变的关系。方法 经临床及用长模板扩增 TMPCR法对 3个 DM家系共 37个受检者进行基因检测 ,同时作心电图记录。结果 2 5例确诊为 DM患者 ;1例可疑 ;余11名家系成员属 DM家系中正常人。 DM病人心电图异常率为 80 % ,而 DM家系正常人心电图异常率仅为9% ,两者有明显的差异 (P <0 .0 1)。心电图异常主要表现为心脏传导障碍 ,且异常与 CTG重复次数有关 ,CTG重复次数高者其心电图变化明显。结论 DM病人心脏受累明显 ,CTG重复次数检测可提示心脏传导障碍的发生与程度。

Objective To study the relationship between CTG (cytosine,thymine,guanine) repeat frenquency in MTPK gene and the change of ECG in patients with myotonic dystrophy (DM).Methods CTG repeat frenquency of MTPK gene in 37 persons of three pedigrees with DM were analyzed by Long Expanded TM Template PCR system, they were received ECG test.Results 25 patients with DM,another 11 persons for normal ones and a patient for suspicious were diagnosed.There was obvious difference in ECG abnormality (P< 0.01 ) between DM patients (80%) and the normal persons of DM pedigree (9%).ECG in patient group was mainly cardiac conduction abnormalities,but the abnormality in DM patients correlated with their CTG repeat frenquency . More CTG repeat frenquency was, more severe the abnormal change of ECG was.Conclusion Cardiac involvment was obvious in DM patients than in normal persons.The examination of CTG repeat frenquency might indicate the onset and degree of cardiac conduction abnormality in DM patients.