Analysis of dystrophin gene deletions in patients from the Mexican population with Duchenne/Becker muscular dystrophy.
Forty unrelated Mexican patients with Duchenne/Becker muscular dystrophy were analyzed for intragenic DMD gene deletions, using the multiplex amplification of 15 deletion-prone exons described by Chamberlain et al. and Beggs et al. The percentage of deletions was 52.5%, and the majority of them (86.3%) were located at the hot spot deletion region which encompasses exons 44-55. This frequency is higher than that found in American and European populations. There were no correlations between deletion size, location and clinical severity.
Coral-Vázquez
R
R
Departamento de Genética y Biología Molecular, CINVESTAV-IPN, Escuela Nacional de Estudios Profesionales Iztacala-UNAM, México, D.F.
Arenas
D
D
Cisneros
B
B
Peñaloza
L
L
Kofman
S
S
Salamanca
F
F
Montañez
C
C
D016189:Dystrophin / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005091:Exons; D017353:Gene Deletion; D005796:Genes; D006801:Humans; D008297:Male; D008800:Mexico; D009136:Muscular Dystrophies / Q000208:ethnology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012720:Severity of Illness Index
D016189:Dystrophin