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Science 5 February 1993:
Vol. 259. no. 5096, pp. 809 - 812
DOI: 10.1126/science.8094260
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Articles

Science, Vol 259, Issue 5096, 809-812
Copyright © 1993 by American Association for the Advancement of Science

articles

Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission

KL O'Hoy, C Tsilfidis, MS Mahadevan, CE Neville, J Barcelo, AG Hunter, and RG Korneluk

Department of Microbiology and Immunology, University of Ottawa, Canada.

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.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
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Fidelity of Primate Cell Repair of a Double-strand Break within a (CTG){middle dot}(CAG) Tract: EFFECT OF SLIPPED DNA STRUCTURES.
J. L. Marcadier and C. E. Pearson (2003)
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Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy.
J. Amiel, V. Raclin, J.-M. Jouannic, N. Morichon, H. Hoffman-Radvanyi, M. Dommergues, J. Feingold, A. Munnich, and J.-P. Bonnefont (2001)
J. Med. Genet. 38, 850-852
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'Mitotic drive' of expanded CTG repeats in myotonic dystrophy type 1 (DM1).
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Genetic Instabilities in (CTG{middle dot}CAG) Repeats Occur by Recombination.
J. P. Jakupciak and R. D. Wells (1999)
J. Biol. Chem. 274, 23468-23479
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Multiple Pathways of Recombination Induced by Double-Strand Breaks in Saccharomyces cerevisiae.
F. Paques and J. E. Haber (1999)
Microbiol. Mol. Biol. Rev. 63, 349-404
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Unstable Triplet Repeat Diseases.
D. G. Monckton and C. T. Caskey (1995)
Circulation 91, 513-520
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Gene Conversion (Recombination) Mediates Expansions of CTG{middle dot}CAG Repeats.
J. P. Jakupciak and R. D. Wells (2000)
J. Biol. Chem. 275, 40003-40013
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