Document Detail

Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission.
MedLine Citation:
PMID:  8094260     Owner:  NLM     Status:  MEDLINE    
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.
K L O'Hoy; C Tsilfidis; M S Mahadevan; C E Neville; J Barceló; A G Hunter; R G Korneluk
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Science (New York, N.Y.)     Volume:  259     ISSN:  0036-8075     ISO Abbreviation:  Science     Publication Date:  1993 Feb 
Date Detail:
Created Date:  1993-03-05     Completed Date:  1993-03-05     Revised Date:  2007-03-19    
Medline Journal Info:
Nlm Unique ID:  0404511     Medline TA:  Science     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  809-12     Citation Subset:  IM    
Department of Microbiology and Immunology, University of Ottawa, Canada.
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MeSH Terms
Age Factors
Apolipoprotein C-II
Apolipoproteins C / genetics
Base Sequence
Chromosomes, Human, Pair 19*
DNA / genetics,  isolation & purification
Genes, Dominant
Molecular Sequence Data
Myotonic Dystrophy / genetics*,  physiopathology
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length*
Repetitive Sequences, Nucleic Acid*
Reg. No./Substance:
0/Apolipoprotein C-II; 0/Apolipoproteins C; 0/Oligodeoxyribonucleotides; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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