Resumo

ACEVEDO LOPEZ, Ana María; ZALDIVAR VAILLANT, Tatiana; MORENO, Felipe  e  HERNANDEZ-CHICO, Concepción. Infantile spinal muscular atrophy: Introduction of molecular diagnosis in Cuba. Rev Cubana Obstet Ginecol [online]. 1999, vol.25, n.2, pp. 128-134. ISSN 1561-3062.

The spinal muscular atrophy (SMA) is a hereditary neurodegenerative disorder caused by selective affection of motor neurones in the anterior of the spinal cord. The spinal muscular atrophics are an important group of paralyzing diseases that may affect any individual regardless of age or sex and they make up a wide clinical genetic range classified into 3 groups interms of age of onset of clinical signs and disease severity. The 3 forms of recessive autosomal SMA were mapped in 5q 11.2-13.3 region which contains several copies of marker genes. Many molecular genetic studies such as linkage analysis with polymorphic markers of the region carried out to isolate that gene or those genes causing the disease have allowed to study the affected families. Hence this paper is aimed at introducing the SMA molecular diagnosis in Cuba for which disease locus markers are evaluated i.e, L407;M4, D5S125, D5S127, D5S610, D5S1416, D5S107, D5S1356 and D5S57. The molecular polymerase chain reaction technique is used for analyzing allele segregation, which allows to identify affected chromosomes by obtaining genotypes in families diagnosed with types 1, 2 and 3 SMA. It was determined that in a family whose eldest son had type 3 SMA, his 4 years-old sister was a SMA gene carrier whereas his 5 years-old brother was helathy. genetic counselling was given to this family.

Palavras-chave : ENFERMEDAD DE WERDNING-HOFFMAN [genetics]; WERDNING HOFFMANN DISEASE [diagnosis]; CUBA.

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