论文部分内容阅读
目的:探讨强直性肌营养不良(DM)患者及家系成员三核苷酸重复数CTG(胞嘧啶、胸腺嘧啶、鸟嘌呤)的变化与BAEP、TCD和ECG的关系。方法:用聚合酶链反应(PCR)扩增及DNA杂交法对5例临床诊断DM患者及三个家系的16名成员进行DM基因的CTG重复数和BAEP、TCD和ECG测定。结果:10名正常人CTG重复数是30个,BAEP、TCD和ECG正常,5例DM病人CTG重复数均在80个以上,其中2例在1605个以上,明显高于正常,16名家系成员中除4名正常,余12例CTG重复数均超过正常基因,而且,CTG重复数与临床症状、BAEP、TCD及ECG轻重有关。结论:DM基因诊断与其临床症状、BAEP、ECD及ECG改变相一致。
Objective: To investigate the relationship between CTG (cytosine, thymine, guanine) and BAEP, TCD and ECG in patients with myotonic dystrophy (DM) and their family members. Methods: The CTG repeats, BAEP, TCD and ECG of DM gene were determined in 5 clinically diagnosed DM patients and 16 members of 3 pedigrees by polymerase chain reaction (PCR) amplification and DNA hybridization. Results: The CTG repeats of 10 normal subjects were 30, BAEP, TCD and ECG were normal. The CTG repeats of 5 DM patients were more than 80, of which 2 were more than 1605, which were significantly higher than those of normal and 16 pedigrees In addition to four normal, more than 12 cases of CTG repeats over normal genes, and CTG repeats and clinical symptoms, BAEP, TCD and ECG severity related. Conclusion: The diagnosis of DM is consistent with clinical symptoms, BAEP, ECD and ECG changes.