Article
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
American journal of human genetics - 1 Oct 1990
Paw B H, Tieu P T, Kaback M M, Lim J, Neufeld E F
Abstract excerpt
Mutations in the HEX A gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), are the cause of Tay-Sachs disease as well as of juvenile, chronic, and adult GM2 gangliosidoses. We have examined the distribution of three mutations--a 4-nucleotide insertion in exon 11, a G----C transversion at a 5' splice site in intron 12, and a 269Gly----Ser amino acid substitution in exon 7--among individuals...
Topics
- Alleles
- Base Sequence
- DNA
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Exons
- Gene Frequency
- Genetic Carrier Screening
- Genetic Testing
- Heterozygote
- Humans