Reduction in Size of the Myotonic Dystrophy Trinucleotide Repeat Mutation During Transmission
- 5 February 1993
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 259 (5096) , 809-812
- https://doi.org/10.1126/science.8094260
Abstract
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 reduced during the transmission of the DM allele; in one of these cases, the number was reduced to within the normal range and correlated at least with a delay in the onset of clinical signs of DM. Haplotype data of six polymorphic markers in the DM gene region indicate that, in this latter case, two stretches of the affected chromosome had been exchanged with that region of the wild-type chromosome.Keywords
This publication has 18 references indexed in Scilit:
- Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: Implications for genetic counselling and genetic anticipationAmerican Journal of Medical Genetics, 1993
- The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.Journal of Medical Genetics, 1992
- Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotypeHuman Molecular Genetics, 1992
- Physical mapping and cloning of the proximal segment of the myotonic dystrophy gene regionGenomics, 1992
- Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophyNature Genetics, 1992
- Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the GeneScience, 1992
- Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family memberPublished by Elsevier ,1992
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromePublished by Elsevier ,1991
- A reordering of human chromosome 19 long-arm DNA markers and identification of markers flanking the myotonic dystrophy locusGenomics, 1989
- THE EVOLUTION OF MULTIGENE FAMILIES: Human Haptoglobin GenesAnnual Review of Genetics, 1986