Article
An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.
Biochemical and molecular medicine - 1 Jun 1995
Richard M M, Erenberg G, Triggs-Raine B L
Abstract excerpt
Tay-Sachs disease (TSD) results from a deficiency of beta-hexosaminidase A (EC 3.2.1.52) activity. A child with late-infantile TSD was found to have two HEXA mutations, 986 + 3A-->G (A-->G at the +3 position of intron 8) and 533G-->A, associated with the variant B1 form of TSD. We were able to detect exon 8-deleted, but no correctly spliced HEXA mRNA, from the non-533G-->A allele in this patient. This suggests...
Topics
- Alleles
- Base Sequence
- Child
- DNA Primers
- Exons
- Female
- Heterozygote
- Hexosaminidase A
- Humans
- Introns
- Molecular Sequence Data
- Point Mutation