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目的 通过测定一强直性肌营养不良 (myotonicdystrophy ,DM)家系中一临床可疑女性DM个体与其流产胎儿的肌强直蛋白激酶 (MyotonicProteinkinase ,MTPK)基因中CTG三核苷酸 (C 胞嘧啶 ,T 胸腺嘧啶 ,G 鸟嘌呤 )重复拷贝数 ,证实DM家族中的患者及可疑个体作产前检查的必要性。方法 用长模板扩展TMPCR法检测孕母及家系中其它两个典型患者的血 ,肌肉及胎儿组织 19q13 2 3位点上肌强直蛋白激酶 (MTPK) 3′端基因非翻译区上CTG三核苷酸重复拷贝数 ,并与一正常妇女血标本做对照。结果 该可疑个体外周血白细胞、肌肉及胎儿组织中MTPK基因CTG三核苷酸重复拷贝数均高于正常 ,并且血液及肌肉DNA中的CTG三核苷酸重复拷贝数无明显差别。家系中典型患者的血、肌肉DNA中的CTG三核苷酸重复拷贝数也有升高 ,但健康对照的CTG三核苷酸重复拷贝数正常。结论 具有DM家族史的孕妇应早期进行分子诊断与产前检查 ,以杜绝患儿出世。
Objective To determine the CTG trinucleotide (C cytosine, T thymidine) in myotonic protein kinase (MTPK) gene of a clinical suspicious female DM patient and its abortion fetus in a myotonic dystrophy (DM) , G guanine) repeat copy number confirms the necessity of prenatal examination for patients in the DM family and suspicious individuals. Methods TMPCR was used to detect CTG trinucleosides on the 3’-untranslated region of myogenic protein kinase (MTPK) in the blood, muscle and fetal tissues of 19q13 2 3 loci in pregnant and other two typical cases of pregnant women and their families. Acid duplicate copy number, and with a normal woman blood samples as control. Results The CTG trinucleotide repeat copy number of MTPK gene in peripheral blood leucocytes, muscle and fetus was higher than normal in this suspicious individual, and there was no significant difference in CTG trinucleotide repeat copy number in blood and muscle DNA. Typical pedigree blood and muscle CTG trinucleotide repeat copy number also increased, but healthy controls CTG trinucleotide repeat copy number normal. Conclusion Pregnant women with a family history of DM should be diagnosed early with molecular diagnosis and prenatal care to prevent the child from being born.