Yulia Clark, Teresa Collazo, Caridad Ruenes, Elsa García, Zoe Robaina, Fragoso T, Rodríguez G, Piloto Y, Espinosa G, Maragoto C, Vera H, García I, Reyes L, Castañeda C

Idioma: Ingles.
Referencias bibliográficas: 17
Paginas: 87-90
Archivo PDF: 240.97 Kb.

RESUMEN

La enfermedad de Wilson es un trastorno hereditario que se transmite con un patrón de herencia autosómico recesivo. Puede provocar lesiones irreversibles en el hígado y el cerebro, que pueden llevar a la muerte. Su causa molecular son las mutaciones en el gen atp7b con 379 variantes promotoras de la enfermedad. El diagnóstico molecular es complejo. En este estudio se empleó la técnica de polimorfismo conformacional de simple cadena para la determinación de cambios conformacionales en el exón 8 de ese gen. Se detectaron dos cambios distintos de la variante normal, denominados: b y c, los cuales correspondieron a las mutaciones L708P y 2304DupC en estado heterocigótico, respectivamente. Las frecuencias alélicas de tales mutaciones en 72 pacientes cubanos con la enfermedad de Wilson son de 2 y 0.7%, respectivamente.

REFERENCIAS (EN ESTE ARTÍCULO)

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