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

Ramón Coral-Vázquez, Diego Arenas, Bulmaro Cisneros, Laura Peñaloza, Fabio Salamanca, Susana Kofman, Rosalio Mercado, Cecilia Montañez

Producción científica: Contribución a una revistaArtículorevisión exhaustiva

16 Citas (Scopus)

Resumen

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.

Idioma originalInglés
Páginas (desde-hasta)240-246
Número de páginas7
PublicaciónAmerican Journal of Medical Genetics
Volumen70
N.º3
DOI
EstadoPublicada - 13 jun. 1997
Publicado de forma externa

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