Document Detail

Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD).
MedLine Citation:
PMID:  8733043     Owner:  NLM     Status:  MEDLINE    
The p13E-11 probe has been shown to detect DNA rearrangements in sporadic and familial cases of FSHD. Its use, however, has been hampered by the fact that it detects at least two pairs of EcoRI alleles, one derived from the 4q35 region (D4F104S1), the other from 10q26 (D10F104S2). We have cloned p13E-11 EcoRI fragments from the 4q35 and 10q26 subtelomeric regions and shown the presence of several restriction site differences within the KpnI tandem repeat units. The two loci present a different distribution of restriction sites for the enzyme BlnI which allows differential cleavage of the KpnI units derived from 10q26, leaving intact the 4q35 pair of alleles. This method of differential restriction greatly facilitates the interpretation of Southern blots obtained from affected and unaffected subjects, with an important improvement in reliability for diagnosis and genetic counselling. In addition, this method can be used to investigate the molecular mechanism of the 4q35 rearrangement implicated in the disease and to ascertain whether the rearrangement is because of interchromosomal exchange between 4qter and 10qter KpnI repeats.
G Deidda; S Cacurri; N Piazzo; L Felicetti
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  33     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1996 May 
Date Detail:
Created Date:  1996-10-10     Completed Date:  1996-10-10     Revised Date:  2012-02-27    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  361-5     Citation Subset:  IM    
Istituto di Biologia Cellulare, CNR, Rome, Italy.
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MeSH Terms
Bacteriophage lambda
Base Sequence
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 4*
Cloning, Molecular
Deoxyribonuclease EcoRI / metabolism
Deoxyribonucleases, Type II Site-Specific / metabolism
Electrophoresis, Gel, Pulsed-Field
Gene Rearrangement*
Molecular Sequence Data
Muscular Dystrophies / genetics*
Restriction Mapping
Grant Support
Reg. No./Substance:
9007-49-2/DNA; EC 3.1.21.-/Deoxyribonuclease EcoRI; EC type II deoxyribonucleases; EC, Type II Site-Specific

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