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.
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.
Coral-Vazquez
R
R
Departamento de Genética y Biología Molecular, Centro de Investigación y de Estudios Avanzados-IPN, México City, México.
Arenas
D
D
Cisneros
B
B
Peñaloza
L
L
Salamanca
F
F
Kofman
S
S
Mercado
R
R
Montañez
C
C
D016189:Dystrophin / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008800:Mexico; D009136:Muscular Dystrophies / Q000235:genetics*
D016189:Dystrophin