Document Detail

Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization.
MedLine Citation:
PMID:  9829273     Owner:  NLM     Status:  MEDLINE    
Two-thirds of patients affected by Duchenne or Becker muscular dystrophy (DMD/BMD) carry large intra-genic deletions in the dystrophin gene. In males, the deletions can be efficiently detected using multiplex polymerase chain reaction (PCR) and Southern blotting. In contrast, deletion detection in carrier females is complicated by the presence of a normal gene copy on the second X-chromosome. We have analyzed the boundaries of 570 deletions and 34 duplications in the dystrophin gene identified in the São Paulo and Leiden diagnostic laboratories. The data were used to select an optimal set of cosmid probes for the detection of the most frequently deleted areas of the dystrophin gene. Six cosmids were evaluated in fluorescence in situ hybridization (FISH) experiments to assess deletions in 21 heterozygous deletion-carriers and nine controls. No discrepancy was found between the FISH analysis and the molecular data, demonstrating the accuracy of the technique for carrier detection in Duchenne and Becker muscular dystrophy.
C Rosenberg; L Navajas; D F Vagenas; E Bakker; M Vainzof; M R Passos-Bueno; R I Takata; G J Van Ommen; M Zatz; J T Den Dunnen
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  8     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  1998 Oct 
Date Detail:
Created Date:  1999-02-04     Completed Date:  1999-02-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  447-52     Citation Subset:  IM    
Department of Biology, Bioscience Institute, University of São Paulo, Brazil.
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MeSH Terms
DNA Probes
Dystrophin / genetics*
Exons / genetics
Gene Deletion
Genes / genetics*
In Situ Hybridization, Fluorescence
Muscular Dystrophies / diagnosis,  genetics*
Reg. No./Substance:
0/DNA Probes; 0/Dystrophin

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

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