Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-β-D-glucopyranoside for prenatal diagnosis of tay-sachs disease using chorionic villi
- 1 July 1987
- journal article
- research article
- Published by Wiley in Prenatal Diagnosis
- Vol. 7 (6) , 419-423
- https://doi.org/10.1002/pd.1970070608
Abstract
Prenatal diagnosis of Tay‐Sachs disease was performed using the sulphated substrate 4‐ methylumbelliferyl‐6‐sulpho‐2‐acetamido‐2‐deoxy‐β‐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.Keywords
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