Detection of Copy Number Variation in Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophies (DMD) by Multiplex Ligation-Dependent Probe Amplification-Based Real-Time PCR
脊髓性肌萎缩症（SpinalMuscularAtrophy，SMA）和杜氏肌营养不良（DuchenneMuscularDystrophies，DMD）是两种常见的遗传性疾病，严重者甚至致死，对于大多数的这两类病症尚无有效治疗手段。SMA在人群中有较高的携带率，尤其在中国患者携带率更是高达1/42，且目前的筛查方法参差不一；DMD在基因组DNA上跨越范围大，是迄今发现的最大的人类基因，具有极高的突变频率，且突变热区不尽相同。因此，对此两种疾病进行大规模人群筛查是降低发病率及提高人口质量的有利途径。目前，临床上常用的检测技术包括：变性高效液相色谱分析（DenaturingHighPerforman...Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are common genetic disorders which can cause severe and untreatable phenotypes. SMA is of high prevalence in the general population. In China, the carrier prevalence is as high as 1/42. Therefore, populational screening for SMA carrier is of clinical importance. DMD is the largest known human gene, spans a wide range of genomic DN...学位：医学硕士院系专业：医学院_临床检验诊断学学号：2452014115352
