Document Detail

Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus.
MedLine Citation:
PMID:  2227948     Owner:  NLM     Status:  MEDLINE    
A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene can be identified. These deletions preferentially include exon 45, which can be detected by multiplex polymerase chain reaction (PCR) and Southern blot analysis of genomic cosmid clones that map to this critical region. As a new approach for definitive carrier detection, we have performed chromosomal in situ suppression (CISS) hybridization with these cosmid clones in female relatives of four unrelated patients. In normal females, most metaphases showed signals on both X chromosomes, whereas only one X chromosome was labeled in carriers. Our results demonstrate that CISS hybridization can define the carrier status in female relatives of DMD patients exhibiting a deletion in the dystrophin gene.
T Ried; V Mahler; P Vogt; L Blonden; G J van Ommen; T Cremer; M Cremer
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Human genetics     Volume:  85     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1990 Oct 
Date Detail:
Created Date:  1990-12-26     Completed Date:  1990-12-26     Revised Date:  2006-04-13    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  581-6     Citation Subset:  IM    
Institut für Humangenetik und Anthropologie der Universität, Heidelberg, Federal Republic of Germany.
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MeSH Terms
Blotting, Southern
Chromosome Mapping
Dystrophin / genetics
Gene Amplification
Heterozygote Detection / methods*
Linkage (Genetics)
Microscopy, Fluorescence
Muscular Dystrophies / genetics*
Nucleic Acid Hybridization
X Chromosome
Reg. No./Substance:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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