Tsvetkova I V, Zolotukhina T V, Rozenfel'd E L, Rozovskiĭ I S
Vopr Med Khim. 1979 Mar-Apr;25(2):214-8.
Deficiency of glycosidases is a fundamental feature of the hereditary diseases of glycoconjugate accumulation. The data obtained on activity of glycosidases in cell culture of normal amnionic fluid might be used as standards in prenatal diagnostics of hereditary glycolipidoses and glycoproteinoses. Use of cell culture of amnionic fluid for prenatal diagnosis of Tay-Sachs disease is described.
糖苷酶缺乏是糖缀合物蓄积遗传性疾病的一个基本特征。在正常羊水细胞培养中获得的关于糖苷酶活性的数据,可作为遗传性糖脂贮积症和糖蛋白贮积症产前诊断的标准。本文描述了利用羊水细胞培养进行泰-萨克斯病产前诊断的方法。