Article
Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers.
American journal of human genetics - 1 Mar 1991
Grebner E E, Tomczak J
Abstract excerpt
DNA from 176 carriers of the Tay-Sachs gene was tested for the presence of the three mutations most commonly found among Ashkenazi Jews: the so-called insertion, splice junction, and adult mutations. Among 148 Ashkenazi Jews tested, 108 had the insertion mutation, 26 had the splice junction mutation, five had the adult mutation, and nine had none of the three. Among 28 non-Jewish carriers tested, most of whom...
Topics
- Adult
- DNA
- Gene Frequency
- Heterozygote
- Humans
- Jews
- Mutation
- Tay-Sachs Disease
- beta-N-Acetylhexosaminidases