Zolotukhina T V, Tsvetkova I V
Biull Eksp Biol Med. 1980 Mar;89(3):344-6.
A method for preparing amniotic fluid cell culture has been developed. The optimal conditions for the culture involved the incubation period averaging 17.9 days. Normal activity values were obtained for 8 glycosidases whose deficiency is responsible for the development of hereditary accumulation diseases. The data obtained allow a prenatal diagnosis of glycolipidoses (Tay-Sachs, Fabrys, Gaucher's diseases, etc.). The evidence on prenatal diagnosis of Tay-Sach's disease is presented.
已经开发出一种制备羊水细胞培养物的方法。培养的最佳条件包括平均潜伏期为17.9天。获得了8种糖苷酶的正常活性值，这些酶的缺乏会导致遗传性蓄积病的发展。所获得的数据允许对糖脂贮积症（泰-萨克斯病、法布里病、高雪氏病等）进行产前诊断。本文提供了泰-萨克斯病产前诊断的证据。
