title: Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystrophy patients: the use of new designed primers for the analysis of the major deletion "hot spot" region.
abstract: We have analyzed 59 unrelated Mexican Duchenne/Becker muscular dystrophy patients (DMD/BMD) using PCR analysis of the 2 prone deletion regions in the DMD gene. Thirty one (52%) of the patients had a deletion of one or several of the exons. Most of the alterations (87%) were clustered in exons 44-52, this being the highest percentage reported until now. In order to improve the molecular diagnosis in the Mexican population, we designed a new multiplex assay to PCR amplify exons 44-52. This assay allowed for the identification of a greater number of deletions in this region compared with the 9 and 5-plex assays previously described and to determine most of the deletion end boundaries. This is a reliable alternative for the initial screening of the DMD patients in the Mexican population.
authors.affiliation: Departamento de Genética y Biología Molecular, Centro de Investigación y de Estudios Avanzados-IPN, México City, México.
authors.forename: R
authors.initials: R
authors.lastname: Coral-Vazquez
authors.forename: D
authors.initials: D
authors.lastname: Arenas
authors.forename: B
authors.initials: B
authors.lastname: Cisneros
authors.forename: L
authors.initials: L
authors.lastname: Peñaloza
authors.forename: F
authors.initials: F
authors.lastname: Salamanca
authors.forename: S
authors.initials: S
authors.lastname: Kofman
authors.forename: R
authors.initials: R
authors.lastname: Mercado
authors.forename: C
authors.initials: C
authors.lastname: Montañez
mesh_terms: D016189:Dystrophin / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008800:Mexico; D009136:Muscular Dystrophies / Q000235:genetics*
chemical_list: D016189:Dystrophin