Document Detail

Combined fluorescence in situ hybridization and PRINS for the analysis of the Dystrophin gene.
MedLine Citation:
PMID:  16861757     Owner:  NLM     Status:  MEDLINE    
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused in most cases by deletions of the DMD gene. These rearrangements are detectable in affected boys and men by a simple multiplex polymerase chain reaction approach. However, this technique is not able to disclose DMD deletions in heterozygous female carriers, and different approaches must be used in these cases. Here, we describe an approach based on the combined use of primed in situ labeling and fluorescence in situ hybridization techniques for the detection of single DMD exons in fixed metaphase chromosomes and interphase nuclei of both male and female subjects, suggesting the usefulness of this tool in the detection of small intragenic deletions of the DMD gene.
Liborio Stuppia; Dario La Sala; Caterina Cinti
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Methods in molecular biology (Clifton, N.J.)     Volume:  334     ISSN:  1064-3745     ISO Abbreviation:  Methods Mol. Biol.     Publication Date:  2006  
Date Detail:
Created Date:  2006-07-24     Completed Date:  2006-08-10     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9214969     Medline TA:  Methods Mol Biol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  115-22     Citation Subset:  IM    
Department of Biomedical Sciences, G. D'Annunzio University, Chieti, Italy.
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MeSH Terms
Chromosomes, Human / genetics
Dystrophin / analysis*,  genetics*
Exons / genetics
In Situ Hybridization, Fluorescence / methods*
Metaphase / genetics
Primed In Situ Labeling / methods*
Reg. No./Substance:

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