Document Detail

Sarcolemmal distribution of abnormal dystrophin in Xp21 carriers.
MedLine Citation:
PMID:  7689380     Owner:  NLM     Status:  MEDLINE    
Some Becker muscular dystrophy carriers, related to patients with specific DNA deletions, demonstrate both normal and abnormally sized dystrophin bands through qualitative Western blot analysis. The purpose of the present investigation was to assess the sarcolemmal distribution of the altered dystrophin in such carriers. Fibres expressing the normal or deleted dystrophin were identified using specific antibodies which reacted with epitopes from within the deleted region. No negative fibres or patchy immunostaining could be seen when sections from four carriers were labelled with either antibodies (C-terminal and corresponding to the deleted region), although a significant amount of abnormal dystrophin was present in their muscle (as seen on blots). Thus, we were able to confirm that in a proportion of the myonuclei, the defective allele was present on the active X chromosome. Our results suggest that the two types of nuclei were randomly distributed, resulting in normal and abnormal dystrophin molecules which were so intimately mixed that dystrophin-incompetent fibres could not be distinguished in the skeletal muscle from the Xp21 carriers.
M Vainzof; L V Nicholson; D E Bulman; A M Tsanaclis; M R Passos-Bueno; R C Pavanello; M Zatz
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  3     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  1993 Mar 
Date Detail:
Created Date:  1993-09-30     Completed Date:  1993-09-30     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  135-40     Citation Subset:  IM    
Departamento de Biologia, Universidade de São Paulo, Brazil.
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MeSH Terms
Blotting, Western
Child, Preschool
Dystrophin / genetics,  metabolism*
Gene Deletion
Linkage (Genetics)*
Middle Aged
Muscular Dystrophies / genetics,  metabolism*
Sarcolemma / metabolism*
X Chromosome*
Reg. No./Substance:
0/Dystrophin; 0/Epitopes

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