title: Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma.
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.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Essen, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Kloss
authors.forename: P
authors.initials: P
authors.lastname: Währisch
authors.forename: V
authors.initials: V
authors.lastname: Greger
authors.forename: E
authors.initials: E
authors.lastname: Messmer
authors.forename: H
authors.initials: H
authors.lastname: Fritze
authors.forename: W
authors.initials: W
authors.lastname: Höpping
authors.forename: E
authors.initials: E
authors.lastname: Passarge
authors.forename: B
authors.initials: B
authors.lastname: Horsthemke
mesh_terms: D015139:Blotting, Southern; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D005134:Eye Neoplasms / Q000235:genetics*; D016161:Genes, Retinoblastoma; D005819:Genetic Markers; D006801:Humans; D009154:Mutation; D015183:Restriction Mapping; D012175:Retinoblastoma / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D004247:DNA