Palabras clave
TIGR/MYOC
OPTN
CYP1B1
genome scan
linkage analysis
glaucoma
TIGR/MYOC
OPTN
CYP1B1
rastreo genómico
análisis de ligamiento
Cómo citar
Resumen
El glaucoma es la segunda causa de ceguera irreversible en el mundo. El componente genético de algunos de los distintos tipos ha sido demostrado: seis loci (GLC1AGLC1F) y dos genes (TIGR/MYOC y OPTN) se conocen, hasta ahora, como responsables de la aparición de glaucomas primarios de ángulo abierto tanto del tipo juvenil (JOAG) como de l tipo de adultos (COAG). Además, dos loci (GLC3A,GLC3B) y un gene (CYP1B1) se han descubierto como causas del tipo primario congénito (PCG). Se presenta una relación de los estudios genéticos iniciales sobre el glaucoma en Costa Rica. Nueve familias: 1 con JOAG, 1 con PCG y 7 con COAG se estudiaron en busca de mutaciones en los genes conocidos. Una duplicación de 10 pb, 1546-1555dupTCATGCCACC, en el gene CYP1B1, causa glaucoma en condición homocigota en una familia consaguínea con PCG. Esta mutación se ha encontrado en otros países y origina un codón de terminación prematuro que codifica una proteína 140 aminoácidos más corta que la normal. En dos de las familias con COAG se encontró una variante inocua Arg76Lys en el exón 1 del gen TIGR/MYOC. Otros pacientes presentaron, en el gene OPTN, dos variantes en la region codificante (Thr34Thr, Met 98Lys) y 7 cambios intrónicos. Una de las familias con COAG cumple con los requerimientos mínimos para un análisis de ligamiento, por lo que se utilizaron 379 marcadores microsatelíticos para mapear el gen causante de la enfermedad. No se obtuvieron valores LOD que claramente implicaran a alguna región cromosómica. La evidencia señala que el glaucoma hereditario en Costa Rica tiene una gran heterogeneidad genética y que es muy posible que los estudios que se desarrollan vayan a descubrir nuevos genes involucrados en la patología.Citas
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Derechos de autor 2004 Revista de Biología Tropical