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

Journal Article · Fri Feb 05 04:00:00 EST 1993 · Science (Washington, D.C.); (United States)

DOI:https://doi.org/10.1126/science.8094260· OSTI ID:7063543

O'Hoy, K L; Tsilfidis, C; Mahadevan, M S; Neville, C E; Barcelo, J ^[1]; Hunter, A G.W. ^[2]; Korneluk, R G ^[3]

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1. Univ. of Ottawa, Ontario (Canada)
2. Children's Hospital of Eastern Ontario, Ottawa (Canada)
3. Univ. of Ottawa, Ontario (Canada) Children's Hospital of Eastern Ontario, Ottawa (Canada)

Myotonic dystrophy (DM) is an autosomal-dominant disorder that affects 1 in 8,000 individuals. Amplification of an unstable trinucleotide CTG repeat, located within the 3[prime] 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. 26 refs., 4 figs.

• OSTI ID: 7063543
• Journal Information: Science (Washington, D.C.); (United States), Journal Name: Science (Washington, D.C.); (United States) Vol. 259:5096; ISSN SCIEAS; ISSN 0036-8075
• Country of Publication: United States
• Language: English

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