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假肥大型肌营养不良症(DMD)是一种儿童最常见的、高度致残的X—性连锁隐性遗传肌病。发病率约为1/3500出生男婴。高风险孕妇致病基因携带者检出的产前诊断是预防本病的唯一有效措施。根据我院神经科对我国DMD病人基因结构、基因突变分布特征的研究,以及在此基础上对6个分布于基因全长短串联重复顺序STR位点在人群中的多态性分布进行分析,建立起DMD家系中高风险孕妇产前基因诊断方法,对三例高风险孕妇成功地进行产前基因诊断。现将
Duchenne muscular dystrophy (DMD) is one of the most common and highly crippled X-linked recessive myopathy in children. The incidence is about 1/3500 born baby boy. Prenatal diagnosis of carriers of high risk maternal pathogenic genes is the only effective measure to prevent the disease. According to the neurology department of our hospital DMD patients gene structure and gene mutation distribution characteristics of the study, and on this basis, six distributed in the gene full-length short tandem repeat STR sequence in the crowd in the distribution of polymorphisms were analyzed to establish From prenatal diagnosis of high-risk pregnant women in DMD pedigree, prenatal genetic diagnosis of three high-risk pregnant women was successfully performed. Now