【摘要】 强直性肌营养不良1型(DM1)是一种多系统受累的常染色体显性遗传病,也是成年人最常见的肌肉萎缩性疾病。19q13.3区域的强直性肌营养不良蛋白激酶(DMPK)基因3`端非编码区CTG重复数的异常扩展是DM1的致病原因。CTG异常扩展序列的转录产物在DM1发病机制中发挥着关键的作用。分子诊断是DM1确诊和评估疾病严重程度的重要手段。本文就DM1的发病机制和分子诊断技术的研究及应用现状进行综述,为进一步开展DM1发病机制和临床诊断实践提供参考。更多还原

【Abstract】 Myotonic dystrophy type 1( DM1),as the most common adult-onset muscular dystrophy,was a multisystem-involved autosomal dominant disease. The incidence reason of DM1 was the expansion of an unstable CTG trinucleotide repeat on the 3`- untranslated region of the DMPK gene which located in the19q13. 3. The transcription product of abnormal extended sequence in CTG played an important role in the pathogenesis of DM1. Molecular diagnosis was an important measure to identify and evaluate the severity of disease for DM1. Focused on the latest development on the pathogenesis of DM1 and the application status of molecular diagnosis,this review provided new ideas for further research of the pathogenesis and the clinical diagnosis of practice of DM1.更多还原