Document Detail

Facioscapulohumeral muscular dystrophy molecular testing using a non radioactive protocol.
MedLine Citation:
PMID:  16144755     Owner:  NLM     Status:  MEDLINE    
Although the facioscapulohumeral muscular dystrophy (FSHD) locus was mapped to 4q35 chromosomal region in 1990, no gene transcript has been as yet identified. Molecular diagnosis is based mainly on the detection of deletions of a 3.3 kb-tandem repeat array in the locus. This procedure offers almost 95% accuracy but is quite complicated and therefore a simpler test would be preferable. We describe a convenient non-radioactive protocol which requires a simple PCR probe synthesis and labelling procedure, thus facilitating and accelerating the standard Southern blot based DNA test. 134 individuals (113 affected and 21 unaffected relatives) were studied and a causal deletion was detected in 72.
Kiriaki Kekou; Helena Fryssira; Christalena Sophocleous; Ariadni Mavrou; Panagiota Manta; Catherine Metaxotou
Related Documents :
2858615 - Prenatal diagnosis and carrier detection of duchenne muscular dystrophy with closely li...
10587585 - Nuclear lamin a/c r482q mutation in canadian kindreds with dunnigan-type familial parti...
7550355 - Mutations in the laminin alpha 2-chain gene (lama2) cause merosin-deficient congenital ...
15452315 - Lama2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy.
1680795 - Linkage assignment of a dna sequence (ercc2l1) homologous to a human dna repair gene in...
12351225 - Construction of a sinorhizobium meliloti strain carrying a stable and non-transmissible...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2005-09-06
Journal Detail:
Title:  Molecular and cellular probes     Volume:  19     ISSN:  0890-8508     ISO Abbreviation:  Mol. Cell. Probes     Publication Date:  2005 Dec 
Date Detail:
Created Date:  2005-11-08     Completed Date:  2006-02-03     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8709751     Medline TA:  Mol Cell Probes     Country:  England    
Other Details:
Languages:  eng     Pagination:  422-4     Citation Subset:  IM    
Department of Medical Genetics, Athens University, "Aghia Sophia" Children's Hospital, Choremio Research Laboratory, Thivon and Levadias Str., Athens 11527, Greece.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Blotting, Southern / methods
DNA Probes / diagnostic use*
Molecular Diagnostic Techniques*
Muscular Dystrophy, Facioscapulohumeral / diagnosis*,  genetics
Polymerase Chain Reaction / methods
Reg. No./Substance:
0/DNA Probes

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

Previous Document:  Rapid and accurate detection of the CFTR gene mutation 1811+1.6 kbA>G by real-time fluorescence reso...
Next Document:  BOLD-fMRI of PTZ-induced seizures in rats.