title: [Molecular diagnosis of Duchenne/Becker muscular dystrophy in Venezuelan patients with the polymerase chain reaction].
abstract: Duchenne and Becker muscular dystrophy (DMD/BMD) are recessive X-linked neuromuscular diseases produced by allelic mutations in the human dystrophin gen. In the present study we determined the 14-deletion prone exons by multiplex PCR in 24 no related venezuelan patients with clinical diagnosis of DMD/BMD. We found 37% of intragenic deletions of which 77% were located at the "hot spot" deletion region that includes exons 44 to 55. The present study show that deletion frequency observed in venezuelan patients resembles some Asian populations and is lower than that observed in Europe and North America. The explanation of the low frequency detected in our patients is beyond the present study, but it is likely that different mutations, ocurring at other regions of the gene is determining a molecular heterogeneity of the DMD/BMD disease in Venezuela.
authors.affiliation: Unidad de Genética Médica, Universidad del Zulia, Maracaibo, Venezuela.
authors.forename: W
authors.initials: W
authors.lastname: Delgado Luengo
authors.forename: L
authors.initials: L
authors.lastname: Pineda-Del Villar
authors.forename: L
authors.initials: L
authors.lastname: Borjas
authors.forename: H
authors.initials: H
authors.lastname: Pons
authors.forename: A
authors.initials: A
authors.lastname: Morales
authors.forename: M C
authors.initials: MC
authors.lastname: Martínez Basalo
authors.forename: H B
authors.initials: HB
authors.lastname: Saldaña
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction; D014687:Venezuela
vernacular_title: Diagnóstico molecular en pacientes venezolanos con distrofia muscular de Duchenne/Becker mediante la reacción en cadena de la polimerasa.