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

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

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 416 KB
• Volume: 70
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19970613)70:3<240::aid-ajmg5>3.0.co;2-#

✦ Synopsis

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. Am. J. Med. Genet. 70:240-246, 1997.