使用4-甲基伞形酮基-6-磺酸-2-乙酰氨基-2-脱氧-β-D-吡喃葡萄糖苷通过绒毛膜绒毛进行泰-萨克斯病的产前诊断。
Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta- D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villi.
作者信息
Grebner E E, Wenger D A
机构信息
Department of Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.
出版信息
Prenat Diagn. 1987 Jul;7(6):419-23. doi: 10.1002/pd.1970070608.
PMID:2958791
Abstract
Prenatal diagnosis of Tay-Sachs disease was performed using the sulphated substrate 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta-D-glucopyranoside to detect hexosaminidase A in chorionic villi. The presence or absence of hexosaminidase A in villi was detected by both a quantitative enzyme assay, and by a rapid, novel procedure which permitted visual discrimination between normal and affected villi.
摘要
使用硫酸化底物4-甲基伞形酮基-6-磺酸-2-乙酰氨基-2-脱氧-β-D-吡喃葡萄糖苷对泰-萨克斯病进行产前诊断，以检测绒毛膜绒毛中的己糖胺酶A。通过定量酶测定法以及一种快速、新颖的方法来检测绒毛中己糖胺酶A的存在与否，该新颖方法能够直观地区分正常绒毛和患病绒毛。
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