A newly designed multiplex PCR assay improves the molecular diagnosis of DMD/BMD in the Mexican population by better detecting deletions in the exon 44-52 hotspot.
May enhance deletion detection in Mexican DMD/BMD patients; leaves open prospective validation and broader applicability.
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.
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Coral‐Vázquez et al. (1997) studied this question.
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