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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ＥＭＧ、ＮＣＶ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ＥＭＧ、ＮＣＶ测定。结果：１０名正常人ＣＴＧ重复数是３０个，ＥＭＧ、ＮＣＶ正常，５例ＤＭ病人ＣＴＧ重复数均在８５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、ＥＭＧ、ＮＣＶ轻重有关。结论：ＤＭ基因诊断与其临床诊断、ＥＭＧ、ＮＣＶ改变相一致
Objective: To investigate the relationship between CTG (cytosine, thymine, guanine) and EMG and NCV in patients with myotonic dystrophy (DM) and their family members. Methods: The CTG repeats, EMG and NCV 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 30 normal subjects were 30, and EMG and NCV were normal. The CTG repeats of 5 DM patients were more than 85, of which 2 were more than 1,605, significantly higher than normal and 16 of 16 family members 4 normal, more than 12 cases of CTG repeat number than the normal gene, and CTG repeat number and clinical symptoms, EMG, NCV severity related. Conclusion: DM gene diagnosis is consistent with clinical diagnosis, EMG and NCV