羊水细胞4-甲基伞形酮基-α-葡萄糖苷酶活性用于庞贝病的产前诊断。
Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease.
作者信息
Fensom A H, Benson P F, Blunt S, Brown S P, Coltart T M
出版信息
J Med Genet. 1976 Apr;13(2):148-9. doi: 10.1136/jmg.13.2.148.
Abstract
Using a simple fluorometric assay for alpha-glucosidase activity of cultured amniotic cells, we have monitored two pregnancies from families at risk for Pompe's disease. The fetus was judged to be affected in one, the pregnancy being terminated and unaffected in the other. The accuracy of these predictions was confirmed. These results suggest that this assay allows accurate prenatal diagnosis of Pompe's disease, three weeks after diagnostic amniocentesis.
摘要
我们使用一种简单的荧光测定法来检测培养的羊膜细胞的α-葡萄糖苷酶活性，对庞贝病高危家庭的两次妊娠进行了监测。其中一例胎儿被判定患病，该妊娠已终止；另一例胎儿未患病。这些预测的准确性得到了证实。这些结果表明，这种测定法能够在诊断性羊膜穿刺术后三周对庞贝病进行准确的产前诊断。
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