López RI, Collazo MT, Santos GEN, Piloto RY, Gómez MM, Reyes NL, Rodríguez CF, Casals ST

Idioma: Ingles.
Referencias bibliográficas: 40
Paginas: 9-16
Archivo PDF: 520.01 Kb.

RESUMEN

Se han identificado más de 1900 mutaciones en el gen CFTR, responsable de la fibrosis quística; algunas de ellas son frecuentes en la mayoría de las poblaciones, mientras que otras caracterizan a una población o familia en particular. Dada la heterogenicidad multinacional y teniendo en cuenta los origenes étnicos de la población cubana, el objetivo de este estudio fue caracterizar la distribución de las mutaciones mas frecuentes en las diferentes regiones del país. Se extrajo ADN a partir de muestras de sangre periférica. La deteccion de p.F508del, p.G542X, p.R1162X, p.R334W, p.R553X y c.3120+1G › A se realizó mediante la Reacción en Cadena de la Polimerasa, seguido de una digestión enzimática y electroforesis en gel de agarosa. Posteriormente se calculó la frecuencia de las mutaciones relacionadas para cada una de las regiones del país. De los 252 pacientes estudiados, 106 fueron de la región Occidental, 65 de la central y 81 de la región Este del país. Teniendo en cuenta el origen étnico de nuestra población, cabe esperar una heterogeneidad elevada de la fibrosis quística. Las mutaciones más frecuentes detectadas están distribuidas de forma general por toda la isla, en relación con el impacto de los genes europeos, africanos y nativo-americanos, así como en dependencia de la migración entre las diferentes regiones del país.

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