Article
Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.
American journal of human genetics - 1 Feb 1991
Navon R, Proia R L
Abstract excerpt
Tay-Sachs disease is an inherited lysosomal storage disorder caused by defects in the beta-hexosaminidase alpha-subunit gene. The carrier frequency for Tay-Sachs disease is significantly elevated in both the Ashkenazi Jewish and Moroccan Jewish populations but not in other Jewish groups. We have found that the mutations underlying Tay-Sachs disease in Ashkenazi and Moroccan Jews are different. Analysis of a...
Topics
- Alleles
- Base Sequence
- Cells, Cultured
- Codon
- DNA
- Heterozygote
- Humans
- Jews
- Molecular Sequence Data
- Morocco
- Mutation
- Oligonucleotide Probes
