Document Detail


Long-range restriction map around the Duchenne muscular dystrophy gene.
MedLine Citation:
PMID:  3024018     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Duchenne muscular dystrophy is an X-linked recessive disease affecting about 1 in 4,000 newborn boys. As in many other inherited diseases, the biochemical basis of the condition is unknown, and as yet there is no effective treatment. Translocations, deletions and other mutations leading to the DMD phenotype are distributed over a chromosomal area of large, but unknown size. Using pulsed-field gradient gel electrophoresis, we have now determined restriction maps of a major fraction of this area, covering two regions of three million basepairs in total, and used it to determine the position of several probes linked to DMD. The maps establish physical distances between structural changes associated with the DMD phenotype and provide evidence for a CpG-rich island proximal to the area containing translocations and deletions associated with the DMD phenotype.
Authors:
M Burmeister; H Lehrach
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Nature     Volume:  324     ISSN:  0028-0836     ISO Abbreviation:  Nature     Publication Date:    1986 Dec 11-17
Date Detail:
Created Date:  1987-01-13     Completed Date:  1987-01-13     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0410462     Medline TA:  Nature     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  582-5     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Chromosome Deletion
Chromosome Mapping
Cytidine Monophosphate / analogs & derivatives,  analysis
DNA / analysis
DNA Restriction Enzymes
Dinucleoside Phosphates*
Genes*
Guanosine / analogs & derivatives,  analysis
Humans
Linkage (Genetics)
Methylation
Muscular Dystrophies / genetics*
Nucleic Acid Hybridization
Phenotype
Translocation, Genetic
X Chromosome*
Chemical
Reg. No./Substance:
0/Dinucleoside Phosphates; 118-00-3/Guanosine; 2382-65-2/cytidylyl-3'-5'-guanosine; 63-37-6/Cytidine Monophosphate; 9007-49-2/DNA; EC 3.1.21.-/DNA Restriction Enzymes

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


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