Document Detail

Replication errors may contribute to the generation of large deletions and duplications in the dystrophin gene.
MedLine Citation:
PMID:  1301934     Owner:  NLM     Status:  MEDLINE    
Frequent recurrent mutations of the human dystrophin gene lead to Duchenne and Becker muscular dystrophies. Although the approximately 2.5 Mb size of the gene may form a large target for mutations it is not clear to date which mechanisms promote the observed high frequency of spontaneous mutants (1 in 10,000 X-chromosomes) of which a high percentage (> 70%) are gross structural aberrations (deletions/duplications). In order to gain insight into possible molecular mechanisms we have cloned and sequenced the deletion junction fragments from two unrelated Duchenne patients. Our data, together with a short review on other cases from the literature, present evidence that errors of DNA replication may contribute to the generation of submicroscopic chromosome rearrangements.
K Baldrich; M Baldrich; A P Monaco; C R Müller
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human mutation     Volume:  1     ISSN:  1059-7794     ISO Abbreviation:  Hum. Mutat.     Publication Date:  1992  
Date Detail:
Created Date:  1993-06-10     Completed Date:  1993-06-10     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  280-7     Citation Subset:  IM    
Department of Human Genetics, University of Würzburg, Germany.
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MeSH Terms
Amino Acid Sequence
Base Sequence
Cloning, Molecular
DNA / genetics
DNA Mutational Analysis
DNA Replication*
Dystrophin / genetics*
Gene Rearrangement
Molecular Sequence Data
Multigene Family
Muscular Dystrophies / genetics
Restriction Mapping
Sequence Deletion
Reg. No./Substance:
0/Dystrophin; 9007-49-2/DNA

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