Document Detail

Carrier detection of deletions in female relatives of X-linked disorders by non-isotopic in situ hybridisation.
MedLine Citation:
PMID:  1503558     Owner:  NLM     Status:  MEDLINE    
Recent studies suggest that a non-isotopic in situ hybridisation (NISH) approach can be successfully employed to investigate the carrier status of female relatives in families of selected patients with Duchenne muscular dystrophy (DMD) or Hunter syndrome, whose diseases are due to a specific X chromosome deletion. Whilst the majority of metaphase spreads from normal females show specific hybridisation signals on both X chromosomes when tested with either dystrophin or Hunter gene-derived probes, only one X chromosome in each metaphase spread will show the relevant hybridisation complex in female carriers of deletions involving the dystrophin or Hunter gene. Thus, the NISH method can be a valuable diagnostic tool for the detection of the carrier status of female relatives of patients with X chromosome deletions.
M Adinolfi; S Stone; D Moralli
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  BioEssays : news and reviews in molecular, cellular and developmental biology     Volume:  14     ISSN:  0265-9247     ISO Abbreviation:  Bioessays     Publication Date:  1992 Jun 
Date Detail:
Created Date:  1992-09-14     Completed Date:  1992-09-14     Revised Date:  2009-09-29    
Medline Journal Info:
Nlm Unique ID:  8510851     Medline TA:  Bioessays     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  421-6     Citation Subset:  IM    
Paediatric Research Unit, United Medical School, Guy's Hospital, London, UK.
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MeSH Terms
Chromosome Deletion*
Genetic Diseases, Inborn / diagnosis*
Heterozygote Detection / methods*
Nucleic Acid Hybridization
X Chromosome*
Grant Support
//Wellcome Trust

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