[GM2 gangliosidosis diagnosis and carriers detection by fractionation of N-acetyl-beta-D-hexosaminidase by electrophoresis on cellulose acetate gel (author's transl)].
A method is described for the fractionation of GM2 gangliosidosis diagnosis and carriers detection by fractionation of N-acetyl-beta-D-Hexosaminidase by electrophoresis on cellulose acetate gel. The hexosaminidase activity is resolved into three bands that are quantified by a densitometric procedure. The methods is applied to normal controls, normal pregnant women, patients of Tay-Sachs disease, heterozigous carriers of Tay-Sachs disease, amniotic fluid, uncultured amniotic cells. The results are compared with those obtained by the "heat inactivation method".
D000653:Amniotic Fluid / Q000201:enzymology; D004796:Clinical Enzyme Tests; D004588:Electrophoresis, Cellulose Acetate / Q000379:methods; D005260:Female; D005315:Fetal Diseases / Q000201:enzymology; D006596:Hexosaminidases / Q000037:antagonists & inhibitors / Q000302:isolation & purification*; D006801:Humans; D008064:Lipidoses / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods
D006596:Hexosaminidases
Diagnóstico de las gangliosidosis GM2 y detección de portadores mediante la determinación de los isoenzimas de la N-acetil-beta-D-hexosaminidasa sérica por electroforesis en celogel.