Abstract

RODRIGUEZ HERNANDEZ, Mayra et al. Diagnóstico de distrofia muscular de Duchenne mediante análisis del ácido desoxinucleotico y su aplicación en la prevención. Rev Cubana Pediatr [online]. 1996, vol.68, n.1, pp. 10-20. ISSN 1561-3119.

A strategy is defined for the prevention in Cuba of the Duchenne's muscular dystrophy (DMD), one of the most frequent lethal hereditary diseases, and the feasibility of its application, and the troubles that might difficult its implantation at a national level, are evaluated. This strategy is mainly based on the need of detecting the affected families, the definition of the carrier women, or the women at risk of being carriers, and the molecular study of the members of interest with anteriority to the offering of prenatal diagnosis services by direct analysis -detection of DMD gen deletions by (PCR) polymerase chain reaction, or indirect analysis-, use of the markers called polymorphisms in the length of the restriction fragments (RFLPs) in ligament analysis. It is concluded that the application of this strategy is feasible and convenient, since it allows offtering a prenatal diagnosis to the 75 % of the carrier women. Its efficiency in the prevention of births of new DMD ill newborns is showed in two prenatal diagnosis, one of which detected an affected pregnancy, interrupted due to the parents'solicitude.

Keywords : MUSCULAR DYSTROPHY [prevention and control]; MUSCULAR DYSTROPHY [diagnosis]; DNA [analysis]; PRENATAL DIAGNOSIS; CHROMOSOME DELETION.