Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma
- 1 May 1991
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 39 (2), 196-200
- https://doi.org/10.1002/ajmg.1320390215
Abstract
DNA samples from 92 unrelated patients with bilateral retinoblastoma were analyzed by Southern blot hybridization with cDNA and genomic clones of the retinoblastoma (RB-1) gene. Qualitative and quantitative evaluation of the Southern blot patterns showed a deletion of all or part of the RB-1 gene in 15 patients. Deletion hot spots were not detected. The study shows that 16% of germ cell mutations are detectable by Southern blot hybridization, but that densitometric analysis is required in most cases.Keywords
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