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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Authors | A Santos, L Osorio-Almeida, P N Baird, J M Silva, M G Boavida, J Cowell |
Journal | Human genetics
(Hum Genet)
Vol. 92
Issue 1
Pg. 83-6
(Aug 1993)
ISSN: 0340-6717 [Print] Germany |
PMID | 8396067
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Abnormalities, Multiple
(genetics)
- Alleles
- Base Sequence
- Child, Preschool
- Chromosomes, Human, Pair 11
- DNA
- Female
- Gene Deletion
- Genes, Wilms Tumor
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Syndrome
- Tumor Cells, Cultured
- Wilms Tumor
(genetics)
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