Article
Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.
American journal of human genetics - 1 Apr 1990
Navon R, Kolodny E H, Mitsumoto H, Thomas G H, Proia R L
Abstract excerpt
The adult form of Tay-Sachs disease, adult GM2 gangliosidosis, is an autosomal recessive neurological disorder caused by a partial deficiency of beta-hexosaminidase A. We had previously identified, in Ashkenazi-Jewish adult GM2 gangliosidosis patients, a Gly269----Ser mutation in the beta-hexosaminidase alpha-subunit. All of the Ashkenazi patients were found to be compound heterozygotes with an allele containing...
Topics
- Base Sequence
- DNA Probes
- Female
- G(M2) Ganglioside
- Gangliosides
- Homozygote
- Humans
- Jews
- Male
- Molecular Sequence Data
- Mutation
- Pedigree