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Infrequent mutation of the WT1 gene in 77 Wilms' Tumors

Please always quote using this URN: urn:nbn:de:bvb:20-opus-34308
  • Homozygous deletions in Wilms' tumor DNA have been a key step in the identification and isolation of the WTI gene. Several additional loci are also postulated to contribute to Wilms' tumor formation. To assess the frequency of WTI alterations we have analyzed the WTI locus in a panel of 77 Wilms' tumors. Eight tumors showed evidence for large deletions of several hundred or thousand kilobasepairs of DNA, some of which were also cytogenetically detected. Additional intragenic mutations were detected using more sensitive SSCP analyses to scan allHomozygous deletions in Wilms' tumor DNA have been a key step in the identification and isolation of the WTI gene. Several additional loci are also postulated to contribute to Wilms' tumor formation. To assess the frequency of WTI alterations we have analyzed the WTI locus in a panel of 77 Wilms' tumors. Eight tumors showed evidence for large deletions of several hundred or thousand kilobasepairs of DNA, some of which were also cytogenetically detected. Additional intragenic mutations were detected using more sensitive SSCP analyses to scan all 10 WTI exons. Most of these result in premature stop codons or missense mutations that inactivate the remaining WTI allele. The overall frequency of WTI alterations detected with these methods is less than 15%. While some mutations may not be detectable with the methods employed, our results suggest that direct alterations of the WTI gene are present in only a small fraction of Wilms' tumors. Thus, mutations at other Wilms' tumor loci or disturbance of interactions between these genes likely play an important role in Wilms' tumor development.show moreshow less

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Metadaten
Author: Manfred Gessler, A. König, K. Arden, P. Grundy, S. H. Orkin, S. Sallan, C. Peters, S. Ruyle, J. Mandell, F. Li, W. Cavenee, G. A. Bruns
URN:urn:nbn:de:bvb:20-opus-34308
Document Type:Journal article
Faculties:Medizinische Fakultät / Theodor-Boveri-Institut für Biowissenschaften
Language:English
Year of Completion:1994
Source:In: Human Mutation (1994) 3, 3, 212-222.
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Tag:Deletion analysis; Mutation screening; Nephroblastoma; SSCP analysis; Tumor suppressor gene; WTI; Wilms' tumor; Zinc finger gene
Release Date:2009/11/10