Article
Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.
American journal of human genetics - 1 Nov 1991
Triggs-Raine B L, Akerman B R, Clarke J T, Gravel R A
Abstract excerpt
The rapid identification of mutations causing Tay-Sachs disease requires the capacity to readily screen the regions of the HEXA gene most likely to be affected by mutation. We have sequenced the portions of the introns flanking each of the 14 HEXA exons in order to specify oligonucleotide primers...
Topics
- Alleles
- Base Sequence
- Blotting, Southern
- Cell Line
- Cloning, Molecular
- DNA
- Exons
- Genetic Testing
- Hexosaminidase A
- Humans
- Molecular Sequence Data
- Mutation
- Nucleic Acid Heteroduplexes
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Tay-Sachs Disease
- beta-N-Acetylhexosaminidases