Document Detail

Deletion and duplication screening in the DMD gene using MLPA.
MedLine Citation:
PMID:  16030524     Owner:  NLM     Status:  MEDLINE    
We have designed a multiplex ligation-dependent probe amplification (MLPA) assay to simultaneously screen all 79 DMD gene exons for deletions and duplications in Duchenne and Becker muscular dystrophy (DMD/BMD) patients. We validated the assay by screening 123 unrelated patients from Serbia and Montenegro already screened using multiplex PCR. MLPA screening confirmed the presence of all previously detected deletions. In addition, we detected seven new deletions, nine duplications, one point mutation, and we were able to precisely determine the extent of all rearrangements. To facilitate MLPA-based screening in laboratories lacking specific equipment, we designed the assay such that it can also be performed using agarose gel analysis and ethidium bromide staining. The MLPA assay as described provides a simple and cheap method for deletion and duplication screening in DMD/BMD patients. The assay outperforms the Beggs and Chamberlain multiplex-PCR test, and should be considered as the method of choice for an initial DNA analysis of DMD/BMD patients.
Tanja Lalic; Rolf H A M Vossen; Jordy Coffa; Jan P Schouten; Marija Guc-Scekic; Danijela Radivojevic; Marina Djurisic; Martÿn H Breuning; Stefan J White; Johan T den Dunnen
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  13     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2005 Nov 
Date Detail:
Created Date:  2005-10-27     Completed Date:  2006-01-23     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1231-4     Citation Subset:  IM    
Department of Medical Genetics, Mother and Child Health Institute of Serbia, Radoja Dakic, Belgrade, Serbia and Montenegro.
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MeSH Terms
Gene Deletion*
Gene Duplication*
Genetic Testing / methods*
Muscular Dystrophy, Duchenne / classification,  genetics*
Nucleic Acid Amplification Techniques / methods*
Polymerase Chain Reaction

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