强直性肌营养不良基因CTG重复数与SEP、MEP对比分析

Comparative analysis of CTG repeat numbers of myotonic dystrophy,SEP and MEP

目的：探讨强直性肌营养不良（ Ｄ Ｍ ）患者及其家系成员基因 Ｃ Ｔ Ｇ 重复数的变化与体感诱发电位（ Ｓ Ｅ Ｐ）、经颅刺激运动诱发电位（ Ｍ Ｅ Ｐ）的比较。方法：用聚合酶链反应（ Ｐ Ｃ Ｒ）扩增及 Ｄ Ｎ Ａ 杂交法对５ 例临床诊断 Ｄ Ｍ 患者及其中 ３ 个家系１６ 名成员进行 Ｄ Ｍ 基因 Ｃ Ｔ Ｇ 重复数和 Ｓ Ｅ Ｐ、 Ｍ Ｅ Ｐ测定。结果：１０ 名正常人 Ｃ Ｔ Ｇ 重复数１９～３０ 个， Ｓ Ｅ Ｐ、 Ｍ Ｅ Ｐ正常５ 例。 Ｄ Ｍ 患者 Ｃ Ｔ Ｇ 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 Ｃ Ｔ Ｇ 重复数均超过正常基因。 Ｃ Ｔ Ｇ重复数与临床症状、 Ｓ Ｅ Ｐ、 Ｍ Ｅ Ｐ有关。结论： Ｄ Ｍ 基因诊断与其临床诊断、 Ｓ Ｅ Ｐ、 Ｍ Ｅ

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.