摘要
目的 :探讨强直性肌营养不良 (MD)患者及其家系成员三核苷酸 (CTG ,即胞嘧啶、胸腺嘧啶、鸟嘌呤 )重复数的变化与BAEP、TCD、ECG的关系。方法 :用聚合酶链 (PCR)扩增及DNA杂交法对 5例临床诊断的MD患者及其中三个家系的 16名成员进行MD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 19~ 30个 ,BAEP、TCD、ECG正常 ;5例MD病人CTG重复数均在 80个以上 ,其中 2例在 16 0 5个以上 ,明显高于正常人 ;16例家系成员中除 4例正常外 ,余 12例CTG重复数均超过正常基因 ,而且CTG重复数与临床症状及BAEP、TCD、ECG的异常程度有关。结论 :MD基因异常与其临床症状、BAEP、TCD、ECG改变相一致。
Objective:To study the relationship between the changes of CTG repeat numbers (cytosine, thymine,guanine) and BAEP,TCD and ECG in patients with myotonic dystrophy (MD) and their family numbers. Methods:The repeat numbers of CTG, BAEP,TCD and ECG of MD gene were detemined by PCR amplification and DNA hybridization in 5 patients with MD (clinically diagnosed) and 16 members from 3 families.Results:In 10 normal subjects the repeat numbers of CTG were 30,and BAEP,TCD and ECG were normal. The CTG repeat numbers of five patients were more than 80,two of them were over 1605,significantly higher than those in normal subjects. It was noted that the repeat numbers were related to BAEP, TCD and ECG.Conclusions:The gene abnormality of MD was found to be consistent with its clinical diagnosis, changes of BAEP,TCD and ECG. [
出处
《临床神经电生理学杂志》
2001年第3期144-147,155,共5页
Journal of Clinical Electroneurophysiology