Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma |
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Authors: | Kai Kloss,Petra W hrisch,Valerie Greger,Elmar Messmer,Henning Fritze,Wolfgang H pping,Eberhard Passarge,Bernhard Horsthemke |
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Affiliation: | Institut für Humangenetik, Universit?tsklinikum Essen, Germany |
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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. |
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Keywords: | RB-1 gene Southern blot patterns cDNA |
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