TY - JOUR
T1 - Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystrophy patients
T2 - The use of new designed primers for the analysis of the major deletion "hot spot" region
AU - Coral-Vázquez, Ramón
AU - Arenas, Diego
AU - Cisneros, Bulmaro
AU - Peñaloza, Laura
AU - Salamanca, Fabio
AU - Kofman, Susana
AU - Mercado, Rosalio
AU - Montañez, Cecilia
PY - 1997/6/13
Y1 - 1997/6/13
N2 - 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.
AB - 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.
KW - Deletions distribution
KW - Duchenne muscular dystrophy gene
KW - Mexican patients
KW - New designed primers
KW - PCR amplification
UR - http://www.scopus.com/inward/record.url?scp=0030963078&partnerID=8YFLogxK
U2 - 10.1002/(sici)1096-8628(19970613)70:3<240::aid-ajmg5>3.0.co;2-#
DO - 10.1002/(sici)1096-8628(19970613)70:3<240::aid-ajmg5>3.0.co;2-#
M3 - Artículo
SN - 1552-4825
VL - 70
SP - 240
EP - 246
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 3
ER -