title: Detection of dystrophin deletion carriers using FISH analysis.
abstract: The detection of carrier status in female relatives of Duchenne/Becker muscular dystrophy patients is not always possible and this poses a problem in genetic counseling. We have developed a simple method that can be used in families in which affected males are characterized by the presence of a deletion within the dystrophin gene. PCR fragments, corresponding to the deleted regions are used as fluorescent probes for hybridization of peripheral lymphocytes nuclei of female relatives. The results obtained clearly demonstrate the feasibility of this method for detecting female DMD/BMD carriers.
authors.affiliation: Servizio di Genetica Medica, IRCCS Ospedale CSS, San Giovanni Rotondo, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Calvano
authors.forename: E
authors.initials: E
authors.lastname: Memeo
authors.forename: M R
authors.initials: MR
authors.lastname: Piemontese
authors.forename: S
authors.initials: S
authors.lastname: Melchionda
authors.forename: L
authors.initials: L
authors.lastname: Bisceglia
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
authors.forename: L
authors.initials: L
authors.lastname: Zelante
mesh_terms: D016189:Dystrophin / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: D016189:Dystrophin