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目的观察并比较6例强直性肌营养不良(DM)临床确诊或可疑的个体不同组织(血及肌肉)中强直性肌营养不良蛋白激酶(MTPK)基因中CTG三核苷酸(C-胞嘧啶,T-胸腺嘧啶,G-鸟嘌呤)重复次数,寻找最能代表DM动态突变的组织。方法用长模板扩增TMPCR法检测血及肌肉19q13.2-3位点上MTPK基因3’端非翻译区上CTG三核苷酸重复次数。结果5例临床确诊DM患者,其中4例血样本中CTG重复次数明显扩增,3例肌肉样本中CTG重复次数也异常扩增,1例临床可疑DM个体血及肌肉样本中CTG重复次数均明显扩增。结论白细胞核中提取DNA检测CTG三核苷酸重复拷贝次数也很敏感,可反映DM动态突变的变化,并且取样方便,易推广。
Objective To observe and compare the expression of CTG trinucleotide (C-cytosine) in the myotonic dystrophin kinase (MTPK) gene in 6 cases of idiopathic muscular dystrophy (DM) clinically diagnosed or suspicious individuals (blood and muscle) , T-thymidine, G-guanine) to find the tissue most representative of the dynamic changes in DM. Methods TMPCR was used to detect the number of CTG trinucleotide repeats on the 3 ’untranslated region of MTPK gene in blood and muscle at 19q13.2-3. Results In 5 cases of clinically diagnosed DM patients, the number of CTG repeats was significantly increased in 4 cases of blood samples, the numbers of CTG repeats were abnormally increased in 3 cases of muscle samples, and the number of CTG repeats in 1 case of clinical DM was significantly higher Amplify. Conclusions It is also very sensitive to detect CTG trinucleotide repeat copy number in DNA extracted from leukocyte nucleus, which can reflect the change of DM dynamic mutation, and it is convenient to sample and easy to popularize.