Resumen

MORALES DE MACHIN, Alisandra et al. Diagnóstico molecular in útero de distrofia muscular de Duchenne. Rev Obstet Ginecol Venez [online]. 2008, vol.68, n.4, pp.228-232. ISSN 0048-7732.

Objective: To perform the molecular diagnosis of Duchenne muscular dystrophy carrier status in pregnant women and male fetuses affected or not. Methods: Molecular analysis for Duchenne muscular dystrophy was performed in 9 DNA samples from 3 pregnant women, 2 fetuses, 2 spouse, 1 affected and 1 healthy male. Using the polymerase chain reaction. Was amplified fragments STRs (short tandem repeat) of introns 44, 45, 49, 50 y 3´DYS of the dystrophin gene; so, we were able to build the haplotypes for each one of the key members in the familie affected. Setting: Medical Genetic Unit of the University of Zulia (UGM-LUZ). Results: The study allowed us to identify, in the 3 pregnant women, the mutant X chromosome responsible of Duchenne muscular dystrophy, thus, prenatal diagnosis was possible with the following results:1 affected male fetuse with Duchenne muscular dystrophy y 1 not carrier female fetuse. Conclussion: The new molecular diagnostic techniques at molecular level in pregnant patients with hereditary diseases permit the diagnostic of genetic diseases.

Palabras clave : Prenatal diagnosis; Duchenne muscular dystrophy; Polymerase Chain Reaction; Mutation; Polymorphism.