Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystropy patients: The use of new designed primers for the analysis of the major deletion 'hot spot' region
Por:
Coral-Vazquez R., Arenas D., Cisneros B., Penaloza L., Salamanca F., Kofman S., Mercado R., Montanez C.
Publicada:
1 ene 1997
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.
|