Article
Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission.
Science (New York, N.Y.) - 5 Feb 1993
O'Hoy K L, Tsilfidis C, Mahadevan M S, Neville C E, Barceló J, Hunter A G, Korneluk R G
Abstract excerpt
Myotonic dystrophy (DM) is an autosomal-dominant disorder that affects 1 in 8000 individuals. Amplification of an unstable trinucleotide CTG repeat, located within the 3' untranslated region of a gene, correlates with a more severe DM phenotype. In three cases, the number of CTG repeats was reduc...
Topics
- Adult
- Age Factors
- Alleles
- Apolipoprotein C-II
- Apolipoproteins C
- Base Sequence
- Chromosomes, Human, Pair 19
- DNA
- Female
- Genes, Dominant
- Haplotypes
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Myotonic Dystrophy
- Oligodeoxyribonucleotides
- Pedigree