Document Detail

Chromosomal localization of long trinucleotide repeats in the human genome by fluorescence in situ hybridization.
MedLine Citation:
PMID:  8563757     Owner:  NLM     Status:  MEDLINE    
Trinucleotide microsatellites are widespread in the human and other mammalian genomes. Expansions of unstable trinucleotide repeats have been associated so far with a number of different genetic diseases including fragile X, myotonic dystrophy (DM) and Huntington disease. While ten possible trinucleotides can occur at the DNA level, only CTG and CCG repeats are involved in the disorders described so far. However, the repeat expansion detection (RED) technique has identified additional large repeats of ATG, CCT, CTT, and TGG of potentially pathological significance in the human genome. We now show that conclusive information about the chromosomal localization of long trinucleotide repeats can be achieved in a relatively short time using fluorescence in situ hybridization (FISH) with biotin-labelled trinucleotide polymers. Large CTG expansions (> 1 kb) in DM and an unstable (CTG)306 repeat in a patient with schizophrenia were detected by eye through the microscope without electronic enhancement. Digital imaging was used to analyse the chromosomal distribution of long CCA and AGG repeats. Our results suggest that long trinucleotide repeats occur in the normal human genome and that the size of individual repeat loci may be polymorphic.
T Haaf; G Sirugo; K K Kidd; D C Ward
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature genetics     Volume:  12     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1996 Feb 
Date Detail:
Created Date:  1996-03-05     Completed Date:  1996-03-05     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  183-5     Citation Subset:  IM    
Max-Planck-Institute of Molecular Genetics, Berlin, Germany.
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MeSH Terms
Base Sequence
Chromosome Mapping / methods*
DNA Probes
Image Processing, Computer-Assisted
In Situ Hybridization, Fluorescence / methods*
Molecular Sequence Data
Schizophrenia, Paranoid / genetics
Trinucleotide Repeats / genetics*
Grant Support
Reg. No./Substance:
0/DNA Probes; 58-85-5/Biotin

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

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