Resumo

RODRIGUEZ HERNANDEZ, Mayra; FERREIRA CAPOTE, Raúl; GAYOL MECIAS, Luis Alberto  e  LUIS GONZALEZ, Ricardo Santiago. Caracterización de deleciones en el gen responsable de la distrofia muscular de Duchenne: su frecuencia en pacientes cubanos. Rev cubana med [online]. 1996, vol.35, n.2, pp. 81-86. ISSN 1561-302X.

Duchenne muscular dystrophy is the commonest and most serious of all muscular dystrophies affecting 1 out of 3 500 live born males and resulting in death within the second or third decade of life. This work was aimed at estimating the frequency of deletions in the DMD gene as the commonest cause of the disease and its characterization. The multiplex PCR technique was used in this study. A number of 30 individuals presenting with Duchenne muscular dystrophy were studied. A deletion in DMD gene was observed in 53 % of cases, while deletions detected in 87 % of patients were located in the region 3' of DMD gene, particularly, exons 48-51 of such gene were involved in 62.5 % of cases.

Palavras-chave : MUSCULAR DYSTROPHY [genetics]; CHROMOSOME DELETION; X CHROMOSOME [genetics]; POLYMERASE CHAIN REACTION [methods]; CUBA.