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羊水粘多糖双向电泳分析及其在粘多糖贮积症产前诊断中的应用

TWO-DIMENSIONAL ELECTOPHORESIS OF AMNIOTIC-FLUID MUCOPOLYSACCHARIDES AND PRENATAL DIAGNOSIS OF MUCOPOLYSACCHARIDOSIS

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【作者】 李善国; 王佩兰; 吴文彦;

【Author】 Li Shan-guo, et al. Laboratory of Medical Genetics, The Sixth People’s Hospital

【机构】 上海市第六人民医院医学遗传研究室; 上海市第六人民医院医学遗传研究室;

【摘要】 采用醋酸纤维薄膜双向电泳,对20例正常妊娠中期羊水粘多糖作了分析,发现仅出现硫酸软骨素和透明质酸两种组份。2例粘多糖贮积症高危孕妇的羊水检查结果还显示硫酸皮肤素和硫酸乙酰肝素两种异常组份,分别诊断为粘多糖贮积症Ⅰ型和Ⅱ型,并经流产胎儿肝组织超微结构检查证实。该方法具有分辨率高、操作简单、省时、省费用等优点,适宜临床应用。

【Abstract】 Two-dimensional electrophoresis on cellulose acetate was used to determine mucopolysaccharides in amniotic fluid from 20 normal pregnant women at 16-22 weeks gestation. Only chondroitin and hyaluronic acid spots were seen in all. Prenatal study of 2 fetuses at risk of munopolysacchridosis Ⅰ (MPS Ⅰ) and MPS Ⅱ were performed. There was appearance of dermatan sulfate and heparan sulfate spots, indicating the diagnosis of mucopolysaccharidosis. Once fetus was confirmed postnatally by ultrastructural examination of the liver. The authors hold that this technique is simple, rapid and suitable for most laboratories.

  • 【文献出处】 上海医学 ,Shanghai Medical Journal , 编辑部邮箱 ,1989年03期
  • 【被引频次】6
  • 【下载频次】42
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