title: Combined fluorescence in situ hybridization and PRINS for the analysis of the Dystrophin gene.
abstract: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused in most cases by deletions of the DMD gene. These rearrangements are detectable in affected boys and men by a simple multiplex polymerase chain reaction approach. However, this technique is not able to disclose DMD deletions in heterozygous female carriers, and different approaches must be used in these cases. Here, we describe an approach based on the combined use of primed in situ labeling and fluorescence in situ hybridization techniques for the detection of single DMD exons in fixed metaphase chromosomes and interphase nuclei of both male and female subjects, suggesting the usefulness of this tool in the detection of small intragenic deletions of the DMD gene.
authors.affiliation: Department of Biomedical Sciences, G. D'Annunzio University, Chieti, Italy.
authors.forename: Liborio
authors.initials: L
authors.lastname: Stuppia
authors.forename: Dario
authors.initials: D
authors.lastname: La Sala
authors.forename: Caterina
authors.initials: C
authors.lastname: Cinti
mesh_terms: D002877:Chromosomes, Human / Q000235:genetics; D016189:Dystrophin / Q000032:analysis* / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008297:Male; D008677:Metaphase / Q000235:genetics; D020401:Primed In Situ Labeling / Q000379:methods*
chemical_list: D016189:Dystrophin