Document Detail

A general method for the detection of large CAG repeat expansions by fluorescent PCR.
MedLine Citation:
PMID:  9004136     Owner:  NLM     Status:  MEDLINE    
The expansion of a tandemly repeated trinucleotide sequence, CAG, is the mutational mechanism for several human genetic diseases. We present a generally applicable PCR amplification method using a fluorescently labelled locus specific primer flanking the CAG repeat together with paired primers amplifying from multiple priming sites within the CAG repeat. Triplet repeat primed PCR (TP PCR) gives a characteristic ladder on the fluorescence trace enabling the rapid identification of large pathogenetic CAG repeats that cannot be amplified using flanking primers. We used our method to test a cohort of 183 people from myotonic dystrophy families including unaffected subjects and spouses. Eighty five clinically affected subjects with expanded alleles on Southern blot analysis were all correctly identified by TP PCR. This method is applicable for any human diseases involving CAG repeat expansions.
J P Warner; L H Barron; D Goudie; K Kelly; D Dow; D R Fitzpatrick; D J Brock
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  33     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1996 Dec 
Date Detail:
Created Date:  1997-03-26     Completed Date:  1997-03-26     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1022-6     Citation Subset:  IM    
Human Genetics Unit, Western General Hospital, Edinburgh, UK.
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MeSH Terms
Cohort Studies
DNA / analysis*
DNA Primers
Myotonic Dystrophy / genetics*
Polymerase Chain Reaction / methods*
Trinucleotide Repeats*
Reg. No./Substance:
0/DNA Primers; 9007-49-2/DNA

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

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