Article
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.
American journal of human genetics - 1 Apr 1992
Mules E H, Hayflick S, Miller C S, Reynolds L W, Thomas G H
Abstract excerpt
Initial investigations demonstrated that only 3/34 "Tay-Sachs chromosomes" in 22 unrelated, non-Jewish patients or carriers of some form of GM2-gangliosidosis (7 black and 15 non-Jewish Caucasian) had either of the two mutations commonly found in the Jewish population. To determine the nature and incidence of the alterations in this non-Jewish population we have utilized PCR, single-strand conformation...
Topics
- Base Sequence
- Black People
- DNA Mutational Analysis
- Hexosaminidase A
- Humans
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Tay-Sachs Disease
- White People