A procedure is described for the preparation of Tay-Sachs ganglioside specifically labeled in the sialic acid portion of the molecule. Rat brain gangliosides were labeled biosynthetically by the intracranial injection of N-acetyl-(3)H-D-mannosamine. Radioactive gangliosides were isolated and selectively degraded with bacterial neuraminidase and rat liver beta-galactosidase to Tay-Sachs ganglioside-(3)H. Radioactivity in the labeled product was confined to the N-acetyl-neuraminic acid portion of the molecule.

Animals↗

PubMedDate not supplied

Computer assisted small-scale Tay-Sachs carrier screening.

Fluorescence data from serum beta-hexosaminidase assays for Tay-Sachs heterozygote screening is processed by a program in BASIC for a Wang 2200 desk-top computer. An estimation of overall error in the results gives a measure of reliability. A preliminary classification is made on the clinical status of the unknown samples as a normal, heterozygous, homozygous, or inconclusive carrier/normal condition. This program allows a small-scale screening center convenient and rapid data processing and analysis.

Clinical Enzyme Tests↗