Article
Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
American journal of human genetics - 1 Aug 1992
Drucker L, Proia R L, Navon R
Abstract excerpt
Infantile Tay-Sachs disease (TSD) is caused by mutations in the HEXA gene that result in the complete absence of beta-hexosaminidase A activity. It is well known that an elevated frequency of TSD mutations exists among Ashkenazi Jews. More recently it has become apparent that elevated carrier frequencies for TSD also occur in several other ethnic groups, including Moroccan Jews, a subgroup of Sephardic Jews....
Topics
- Base Sequence
- Codon
- DNA
- DNA Restriction Enzymes
- Genetic Carrier Screening
- Hexosaminidase A
- Humans
- Jews
- Molecular Sequence Data
- Morocco
- Mutation
- Polymerase Chain Reaction
