Document Detail


Molecular heterogeneity of translocations associated with muscular dystrophy.
MedLine Citation:
PMID:  3594934     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Individual translocation chromosomes from six girls suffering from Duchenne or Becker muscular dystrophy (DMD or BMD) have been isolated in human-mouse somatic cell hybrids. DNA prepared from these hybrids was probed with sequences physically close to the locus; these include a junction fragment from the site of the X:21 translocation (pXJ1) and subclones from the pERT 87 (DXS164) region which are absent in a minority of male DMD patients. Both sets of sequences mapped within the area defined by the translocation breakpoints, confirming their close proximity to the DMD and BMD loci. Furthermore, the X chromosome breakpoints of the translocations can be divided into three categories depending upon their position in relation to the sequences recognised by pXJ1 and pERT 87. The genomic target disrupted by the translocations examined here is a minimum of 176 kb.
Authors:
Y Boyd; E Munro; P Ray; R Worton; T Monaco; L Kunkel; I Craig
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  31     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1987 Apr 
Date Detail:
Created Date:  1987-07-24     Completed Date:  1987-07-24     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  265-72     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping
Chromosomes, Human, Pair 21*
Female
Humans
Hybrid Cells / ultrastructure
Muscular Dystrophies / genetics*
Translocation, Genetic*
X Chromosome*

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