Document Detail

The screening of Duchenne muscular dystrophy patients for submicroscopic deletions.
MedLine Citation:
PMID:  3806637     Owner:  NLM     Status:  MEDLINE    
We have probed the DNA of 156 Duchenne muscular dystrophy (DMD) patients, representing 140 kindreds, with cloned DNA sequences derived from Xp21 and known to show deletions in some DMD patients. Sixteen cases showed a deletion, as defined by lack of hybridisation to one or more of the four probes used. However, two of these cases were brothers, so 15 independent deletions (10.7%) are represented. The deletion map is compatible with the suggested order for the sites of the probes used in the study, that is, telomere----pERT87.15----pERT87.8----pERT87.1----pX J1.1----754----centromere. Further mapping of these deletions and characterisation of the deletion breakpoints should facilitate more accurate molecular localisation of the gene or genes which, when mutated, are responsible for causing DMD.
K Hart; C Cole; A Walker; S Hodgson; L Johnson; V Dubowitz; P Ray; R Worton; M Bobrow
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  23     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1986 Dec 
Date Detail:
Created Date:  1987-03-11     Completed Date:  1987-03-11     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  516-20     Citation Subset:  IM    
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MeSH Terms
Chromosome Deletion*
Chromosome Mapping
DNA / analysis
Muscular Dystrophies / genetics*
Nucleic Acid Hybridization
X Chromosome*
Reg. No./Substance:

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