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Los defectos del desarrollo en el síndrome de Gorlin están relacionados con un gen supresor de tumores en el
M R Gailani1, S J Bale, D J Leffell
1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510.
Cell
|April 3, 1992
Resumen
El síndrome de Gorlin, un trastorno de predisposición al cáncer, está relacionado con el cromosoma 9q31.1. Las mutaciones en esta región.
Área de la Ciencia:
- Genética La genética.
- Oncología Oncología Oncología.
- Biología del desarrollo Biología del desarrollo.
Sus antecedentes:
- El síndrome de Gorlin es un trastorno autosómico dominante.
- Predispone a las personas a carcinomas de células basales, fibromas ováricos y medulloblastomas.
- El síndrome se caracteriza por defectos generalizados del desarrollo, lo que lo distingue de otros trastornos hereditarios del cáncer.
Objetivo del estudio:
- Para investigar si el síndrome de Gorlin es causado por mutaciones en un gen supresor de tumores.
- Para identificar la región cromosómica específica asociada con el síndrome.
Principales métodos:
- Se buscó la pérdida de heterocigosidad en tumores esporádicos y hereditarios.
- Realizó estudios de vinculación genética en parientes del síndrome de Gorlin.
Principales resultados:
- Once carcinomas esporádicos de células basales y tres tumores hereditarios mostraron pérdida alélica del cromosoma 9q31.1.
- Todos los parientes informativos demostraron una estrecha relación entre el gen del síndrome de Gorlin y un marcador en el cromosoma 9q31.1.
- La pérdida de heterocigosidad implica la inactivación homocigótica de un gen supresor de tumores.
Conclusiones:
- El gen responsable del síndrome de Gorlin se encuentra en el cromosoma 9q31 y funciona como supresor de tumores.
- La inactivación homocigótica de este gen conduce al desarrollo de tumores.
- Las mutaciones de la línea germinal hemisigóticas resultan en múltiples anomalías congénitas.
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