Direct pulsed field gel electrophoresis of Wilms' tumors shows that dna deletions in 11 p 13 are rare

作者：Brigitte Royer‐Pokora, Susanne Ragg, Brigitte Heckl‐Östreicher, Manuela Held, Ursula Loos, Katherine M. Call, Tom M. Glaser, David E. Housman, Grady F. Saunders, Bernhard Zabel, Bryan Williams, Annemarie Poustka · 发表于：Genes Chromosomes and Cancer · 年份：1991 · DOI：10.1002/gcc.2870030203 · 被引用次数：44 · 研究领域：Renal and related cancers、Renal cell carcinoma treatment、Urological Disorders and Treatments

In order to search for small tumor-specific deletions in 11p13 we analysed DNA isolated from 30 fresh Wilms' tumor (WT) samples with pulsed field gel electrophoresis. For these studies we have isolated new probes from the ends of several Notl fragments. Using these and previously described probes from 11p13 we first completed and extended the existing map of the 11p13 region. The analysis of the tumor material showed that (I) tumor-specific deletions were very rare: one homozygous deletion out of 30 tumors analysed, (2) hemizygous deletions were not observed in any of the tumors. The homozygous deletion in one patient spans 220 kb and is composed of a tumor-specific translocation associated with a deletion on one chromosome and a deletion of about 220 kb on the other chromosome at the same site. The WT-33 Wilms' tumor candidate gene maps to this deleted segment. A small constitutional deletion of 1,300 kb was identified in a patient with WT and genital tract malformations. These results suggest that in the majority of sporadic WT loss of gene function is due to subtle alterations in the gene, e.g., point mutations or very small deletions.