Resumo

VASQUEZ-CERDAS, Melissa et al. Molecular diagnosis of Huntington´s disease in Costa Rica. Acta méd. costarric [online]. 2008, vol.50, n.1, pp.35-41. ISSN 0001-6002.

Justification and Aim.This study represents an effort to establish the molecular diagnosis of Huntington ’s disease in Costa Rica. This would improve the clinical management of the patients and that could be translated into better quality of life for them and their families. Aim: to determine the number of CAG repeats in affected individuals and their relatives by molecular diagnosis in order to offer them adequate genetic counseling. Methods:The study involved 7 patients with clinical diagnosis of this disease and 31 relatives at risk. To determine the number of repeats we used the polymerase chain reaction and electrophoresis on agarose and polyacrylamide gels. Results:We obtained the molecular diagnosis in all of the individuals. The clinical diagnosis was confirmed in the 7 affected individuals,11 remained asymptomatic but carrying the mutation and 20 were found without the mutation. A negative correlation was observed between the age of onset and the repeat size. We also observed intergenerational instability, both through the maternal and paternal side. There were no differences in the number of repeats according to sex of the progenitor transmitter. Conclusions: Our molecular analyses showed a profile of repeats similar to other populations. We have identified for the first time families carrying a CAG expansion in Costa Rica,which will allow us to give adequate and opportune genetic counseling to the patients and their families, based on reliable information.

Palavras-chave : Costa Rica; molecular diagnosis; Huntington disease; genetic instability; instable mutations; AG repeat triplets.

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