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粘多糖贮积症是由于细胞溶酶体内酸性粘多糖水解酶先天性缺陷而引起的一类遗传性代谢病,本文介绍了一种羊水粘多糖双向电泳分离技术,用该方法分析了30例妊娠中期羊水的粘多糖组份,结合其它生化方法对5例高危妊娠孕妇进行了羊水组份测定。两例孕妇羊水被明确诊断,终止妊娠并得到;临床证实。其余3例出生后被证实发育正常.
Mucopolysaccharidosis is a kind of hereditary metabolic disease caused by the congenital defect of acid mucopolysaccharide hydrolyzate in the cell lysosome. This article introduced a two-dimensional gel electrophoresis separation technology of amniotic mucopolysaccharide, and analyzed 30 cases of pregnancy Midazolam mucopolysaccharide components, combined with other biochemical methods in 5 cases of high-risk pregnant women were amniotic fluid composition determination. Two cases of pregnant women, amniotic fluid was diagnosed, termination of pregnancy and get; clinically confirmed. The remaining 3 cases were confirmed to be normal after birth.