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Duchenne肌营养不良(Duchenne muscu-ler dystrophy DMD)是一种较常见的X连锁性致死性肌肉变性疾病,其发病率为1/3 500性活婴。DMD患者常于2～5岁时出现肌无11岁失去行走能力,20岁左右死亡。该病迄今尚无有效的治疗方法。为了优生优育,产前诊断是防止DMD患儿出生的重要途径。目前,多根据羊水中的肌酸激酶(creatine phosphate ki-nase CPK)和肌红蛋白值、胎儿肌组织活检对胎儿进行产前诊断。近年来,随着分子生物学技术的迅速发展,不仅查明了DMD的致病基因,
Duchenne muscu-ler dystrophy DMD is a more common X-linked lethal degenerative disease with a prevalence of 1/3 500 live infants. DMD patients often appear in the age of 2 to 5 years without muscle loss of walking ability of 11-year-old, died of 20-year-old. The disease so far no effective treatment. In order to prenatal and postnatal care, prenatal diagnosis is an important way to prevent the birth of children with DMD. At present, based on amniotic fluid creatine kinase (creatine phosphate ki-nase CPK) and myoglobin values, fetal muscle biopsy of the fetus for prenatal diagnosis. In recent years, with the rapid development of molecular biology techniques, not only the pathogenicity genes of DMD have been identified,