TY - JOUR
TI - Facioscapulohumeral muscular dystrophy molecular testing using a non radioactive protocol
AU - Kekou, K.
AU - Fryssira, H.
AU - Sophocleous, C.
AU - Mavrou, A.
AU - Manta, P.
AU - Metaxotou, C.
JO - Molecular and Cellular Probes
PY - 2005
VL - 19
TODO - 6
SP - 422-424
PB - 
SN - 0890-8508, 1096-1194
TODO - 10.1016/j.mcp.2005.06.003
TODO - accuracy;  article;  chromosome analysis;  controlled study;  diagnostic procedure;  DNA determination;  fascioscapulohumeral muscular dystrophy;  gene deletion;  gene locus;  gene mapping;  gene probe;  genetic transcription;  human;  major clinical study;  neuromuscular disease;  nucleotide sequence;  polymerase chain reaction;  priority journal;  Southern blotting;  tandem repeat, Blotting, Southern;  DNA Probes;  Humans;  Molecular Diagnostic Techniques;  Muscular Dystrophy, Facioscapulohumeral;  Polymerase Chain Reaction
TODO - 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. © 2005 Elsevier Ltd. All rights reserved.
ER -