title: Facioscapulohumeral muscular dystrophy molecular testing using a non radioactive protocol.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Athens University, "Aghia Sophia" Children's Hospital, Choremio Research Laboratory, Thivon and Levadias Str., Athens 11527, Greece. kkekou@cc.uoa.gr
authors.forename: Kiriaki
authors.initials: K
authors.lastname: Kekou
authors.forename: Helena
authors.initials: H
authors.lastname: Fryssira
authors.forename: Christalena
authors.initials: C
authors.lastname: Sophocleous
authors.forename: Ariadni
authors.initials: A
authors.lastname: Mavrou
authors.forename: Panagiota
authors.initials: P
authors.lastname: Manta
authors.forename: Catherine
authors.initials: C
authors.lastname: Metaxotou
mesh_terms: D015139:Blotting, Southern / Q000379:methods; D015342:DNA Probes; D006801:Humans; D025202:Molecular Diagnostic Techniques; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D015342:DNA Probes