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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Identificación del gen de la esclerosis tuberosa TSC1 en el cromosoma 9q3434
M van Slegtenhorst1, R de Hoogt, C Hermans
1Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, Netherlands.
Science (New York, N.Y.)
|August 8, 1997
Resumen
El complejo de esclerosis tuberosa (TSC) es un trastorno genético que causa tumores. Los investigadores identificaron mutaciones en el gen TSC1, lo que sugiere que su producto proteico, hamartin, funciona como supresor de tumores.
Área de la Ciencia:
- Genética La genética.
- Oncología Oncología.
- Biología Molecular Biología Molecular
Sus antecedentes:
- El complejo de esclerosis tuberosa (TSC) es un trastorno autosómico dominante.
- Se caracteriza por hamartomas (tumores) en múltiples órganos.
- Los loci del TSC están mapeados en los cromosomas 9q34 (TSC1) y 16p13 (TSC2).
Objetivo del estudio:
- Identificar el gen TSC1 y su proteína codificada.
- Investigar las mutaciones dentro del gen TSC1.
- Determinar la función de hamartin en la patogénesis del TSC.
Principales métodos:
- El mapeo genético y la clonación posicional para identificar TSC1.1.
- Análisis de transcripción para caracterizar la expresión de TSC1.
- Cribado de mutaciones del gen TSC1 en pacientes.
- Análisis de mutaciones somáticas en tumores asociados con TSC.
Principales resultados:
- El gen TSC1 fue identificado dentro de una región de 900 kilobases.
- El transcrito TSC1 de 8,6 kilobases codifica una proteína de 130 kilodaltones, hamartin.
- Se encontraron treinta y dos mutaciones distintas de TSC1, en su mayoría truncantes.
- Se produjo una mutación específica (2105delAAAG) en seis pacientes no relacionados.
- Mutación somática en el alelo de tipo salvaje encontrado en un carcinoma renal asociado a TSC.
Conclusiones:
- Hamartin, codificado por TSC1, está implicado en la supresión tumoral.
- Las mutaciones en TSC1 son una causa del complejo de la esclerosis tuberosa.
- Se justifica una mayor investigación sobre la función supresora de tumores de hamartin.
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