论文部分内容阅读
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 Ｐ相一致
Objective: To investigate the changes of C T G repeats and the somatosensory evoked potentials (S E P) and transcranial stimulation motor evoked potentials (M E P) in patients with muscular dystrophy (D M) and their pedigrees. Methods: The D M gene C T G repeats and S E P were detected in 5 clinically diagnosed D M patients and 16 of 3 pedigrees by polymerase chain reaction (PCR) amplification and D N A hybridization. M E P determination. Results: There were 19-30 C T G repeats in 10 normal subjects and 5 cases of normal S E P and M E P. Patients with D M had more than 80 C T G repeats, of which 2 were more than 1 605, significantly higher than those in normal controls. Except for 4 of 16 family members, more than 12 C T G repeats exceeded normal gene. C T G repeat number and clinical symptoms, S E P, M E P related. Conclusion: D M gene diagnosis is consistent with its clinical diagnosis, S E P and M E P