Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome.
Hum Genet
; 92(1): 83-6, 1993 Aug.
Article
en En
| MEDLINE
| ID: mdl-8396067
ABSTRACT
The WT1 gene was analysed using DNA from a Wilms' tumour derived from a patient with the WAGR syndrome using single strand conformation polymorphism analysis and polymerase chain reaction sequencing. A 14-bp insertion was found in the intron part of the splice donor site of exon 7 and was a tandem duplication of an upstream exon sequence. This mutation would be expected to disrupt the correct processing of the WT1 mRNA and is predicted to result in a non-functional protein. This observation further supports the role of WT1 in Wilms' tumorigenesis in patients with constitutional 11p13 deletions.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 11
/
Genes del Tumor de Wilms
/
Tumor de Wilms
Límite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Hum Genet
Año:
1993
Tipo del documento:
Article
País de afiliación:
Portugal