SciELO - Scientific Electronic Library Online

 
vol.35 número2Prueba de estimulación por frío como método predictivo del comportamiento tensional perioperatorio en pacientes hipertensos índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados

Journal

Artigo

Indicadores

  • Não possue artigos citadosCitado por SciELO

Links relacionados

  • Não possue artigos similaresSimilares em SciELO

Compartilhar


Revista Cubana de Medicina

versão impressa ISSN 0034-7523versão On-line ISSN 1561-302X

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 0034-7523.

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.

        · resumo em Espanhol     · texto em Espanhol

 

Creative Commons License Todo o conteúdo deste periódico, exceto onde está identificado, está licenciado sob uma Licença Creative Commons