Document Detail

Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions.
MedLine Citation:
PMID:  7910579     Owner:  NLM     Status:  MEDLINE    
Recently, probe p13E-11 (D4F104S1) was shown to identify de novo DNA rearrangements, which are associated with the development of facioscapulohumeral muscular dystrophy (FSHD). These rearrangements are likely to become instrumental in cloning the FSHD gene itself. Analysis by pulsed-field gel electrophoresis demonstrates that p13E-11 recognizes two highly polymorphic loci, with HindIII restriction fragments ranging in size from about 30 to 320 kb. Haplotype analysis unambiguously assigned one of the two loci to chromosome 4q35. The detection of identical NotI or NruI fragments with both CEB8 (D4F35S1) and p13E-11 demonstrated that the DNA rearrangements are deletions that are restricted to the HindIII fragments detectable by p13E-11. In two cases, the sizes of the deletion could be established and were found to be 25 and 85 kb in length, respectively. So far, we have been able to define the parental origin of the mutation in seven different patients and have found that in five cases the maternal allele was involved.
C Wijmenga; J C van Deutekom; J E Hewitt; G W Padberg; G J van Ommen; M H Hofker; R R Frants
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genomics     Volume:  19     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1994 Jan 
Date Detail:
Created Date:  1994-06-21     Completed Date:  1994-06-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  21-6     Citation Subset:  IM    
MGC Department of Human Genetics, Leiden University, The Netherlands.
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MeSH Terms
Chromosomes, Human, Pair 4*
DNA Mutational Analysis
DNA Probes
Electrophoresis, Gel, Pulsed-Field*
Genes, Dominant
Genetic Markers
Muscular Dystrophies / genetics*
Polymorphism, Restriction Fragment Length*
Sequence Deletion*
Reg. No./Substance:
0/DNA Probes; 0/Genetic Markers

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