| 摘要: |
| 目的：探讨强直性肌营养不良(DM)患者及其家系成员基因CTG重复数的变化与体感诱发电位(SEP)、经颅刺激运动诱发电位(MEP)的比较。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患者及其中3个家系16名成员进行DM基因CTG重复数和SEP、MEP测定。结果：10名正常人CTG重复数19-30个，SEP、 MEP正常5例。 DM患者CTG重复数均在80个以上，其中2例在1 605个以上，明显高于正常人;16名家系成员中除4例正常，余12例CTG重复数均超过正常基因。CTG重复数与临床症状、SEP、MEP有关。结论：DM基因诊断与其临床诊断、SEP、MEP相一致。 |
| 关键词: 强直性肌营养不良、CTG重复数、诱发电位 |
| DOI： |
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| 基金项目: |
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| Comparative analysis of CTG repeat numbers of myotonic dystrophy，SEP and MEP |
| 刘莹,倪利英,菝??谢惠君,崔毅 |
| () |
| Abstract: |
| Objective：To study the change of CTG repeat numbers in patients and their family members of DM， SEP and MEP.Methods: CTG repeat numbers of DM, SEP and MEP gene from 5 patients diagnosed as DM clinically, and their 16 family members and a healthy subject were analysed by polymerase chain reaction and Southern blot. Results: The numbers of CTG repeat were 19-30 in 10 normal individuals,SEP and MEP were normal. It ranged from 80 to more than 1 605 in 5 patients with DM which were much higher than the normal person. The repeat numbers of CTG in 12 of 16 family members were higher than the normal. The severity degree of clinical symptoms of these 5 patients was related to the degree of amplification of CTG, SEP and MEP.Conclusion: The gene diagnosis of DM is consistent with its clinical diagnosis, SEP and MEP. |
| Key words: myotonic dystrophy CTG repeat numbers evoked potential |
