摘要
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。
Objectives:To study the relationship between the changes in cytosine, thymine, guanine (CTG) repeat numbers and EMG, NCV in patients with myotonic dystrophy (MD) and their family members.Methods:The repeat numbers of CTG, ENG and NCV of MD gene were determined by PCR amplification and DNA hybridization in 5 cases of MD (clinically diagnosed) and 16 members from there families (three families).Results:In 10 normal subjects the repeat numbers of CTG were 30, and EMG and NCV were normal. The numbers of CTG in five patients were more than 85, two of them were over 1605,significantly higher than those in normal subjects. It was noted that the repeat numbers were related to EMG and NCV.Conclusions:The gene diagnosis of MD was found to be consistent with its clinical diagnosis, changes of EMG and NCV.
