Deleciones del GEN DMD en pacientes con distrofia muscular de Duchenne y Becker, en Ciudad Bolívar, estado Bolívar, Venezuela | DMD GENE deletions in patients with Duchenne and Becker muscular dystrophy in Ciudad Bolivar, Bolivar state, Venezuela

Resumen

Se diseñó un estudio de tipo observacional y descriptivo, donde se estudiaron tres pacientes masculinos con diagnóstico clínico de distrofia muscular de Duchenne/Becker (DMD/DMB). Previa extracción de ADN, luego de estandarizada la técnica, se inicia el estudio molecular mediante PCR multiplex utilizando los set de primers de Chamberlain y Beggs. Los geles de poliacrilamida al 6,5%, permitieron observar deleciones exónicas específicas. Se obtuvo deleciones en sólo uno de los pacientes estudiados, siendo los exones delecionados 50-51-52, correspondientes al “hotspot mayor”.

Palabras claves: Deleción, distrofina, PCR multiplex.

ABSTRACT

An observational and descriptive study was designed in which 3 male patients with clinical diagnosis of Duchenne/Becker muscular dystrophy (DMD/DMB) were studied. DNA was extracted, after the technique was standardized, and the molecular study was initiated by multiplex PCR using the Chamberlain and Beggs set of primers. Polyacrylamide gels at 6.5% allowed to visualize specific exonic deletions. Deletions were obtained in only one of the patients studied and the deleted exons were 50-51-52, corresponding to the "mayor hotspot".

Key words: Deletion, dystrophin, multiplex PCR.