Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta- D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villi.
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.
D002824:Chorionic Villi / Q000032:analysis*; D005260:Female; D054818:Hexosaminidase A; D006801:Humans; D006923:Hymecromone / Q000031:analogs & derivatives; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013661:Tay-Sachs Disease / Q000175:diagnosis*; D014468:Umbelliferones; D001619:beta-N-Acetylhexosaminidases / Q000032:analysis / Q000302:isolation & purification
D014468:Umbelliferones; D006923:Hymecromone; C043647:4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-glucopyranoside; D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases