Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-β-D-glucopyranoside for prenatal diagnosis of tay-sachs disease using chorionic villi |
| |
| Authors: | Eugene E Grebner David A Wenger |
| |
| Institution: | Department of Medicine, Division of Medical Genetics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, U.S.A |
| |
| 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: | Prenatal diagnosis Tay-Sachs disease Chorionic villus sampling β-Hexosaminidase 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-β-D-glucopyranoside |
|
