Article
The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.
Human genetics - 1 Dec 1992
Hechtman P, Boulay B, De Braekeleer M, Andermann E, Melançon S, Larochelle J, Prevost C, Kaplan F
Abstract excerpt
Mutations at the hexosaminidase A (HEXA) gene which cause Tay-Sachs disease (TSD) have elevated frequency in the Ashkenazi Jewish and French-Canadian populations. We report a novel TSD allele in the French-Canadian population associated with the infantile form of the disease. The mutation, a G-->...
Topics
- Base Sequence
- DNA, Single-Stranded
- Female
- Gene Expression
- Gene Frequency
- Heterozygote
- Hexosaminidase A
- Humans
- Introns
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Quebec
- RNA Splicing
- RNA, Messenger
- Tay-Sachs Disease