Article
Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.
Journal of Korean medical science - 1 Feb 1993
Yoo H W, Astrin K H, Desnick R J
Abstract excerpt
Tay-Sachs disease (GM2 gangliosidosis, type 1; TSD) is an autosomal recessive GM2 gangliosidosis resulting from the deficient activity of the lysosomal hydrolase beta-hexosaminidase A (Hex A). With a carrier frequency estimated at 1 in 25, it is a common lysosomal disorder in the Ashkenazi Jewish...
Topics
- Base Sequence
- Clinical Enzyme Tests
- DNA
- Genetic Carrier Screening
- Genetic Testing
- Heterozygote
- Humans
- Molecular Sequence Data
- Mutation
- Tay-Sachs Disease