Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma

Am J Med Genet. 1991 May 1;39(2):196-200. doi: 10.1002/ajmg.1320390215.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • Chromosome Deletion*
  • DNA / genetics
  • Eye Neoplasms / genetics*
  • Genes, Retinoblastoma*
  • Genetic Markers
  • Humans
  • Mutation
  • Restriction Mapping
  • Retinoblastoma / genetics*


  • Genetic Markers
  • DNA