Molecular-genetic analysis of two cases with retinoblastoma: benefits for disease management

J Genet. 2003 Apr-Aug;82(1-2):39-44. doi: 10.1007/BF02715880.


Effective counselling and management of retinoblastoma families using genetic information is presently practised in many parts of the world. We studied histopathological, chromosomal and molecular-genetic data of two retinoblastoma patients from India. The two patients, one with bilateral and the other with unilateral retinoblastoma, underwent complete ophthalmic examination, cytogenetic study, retinoblastoma gene (RB1) mutational analysis and RB1 promoter region methylation screening. In the bilateral retinoblastoma patient deletion of chromosome region 13q14 in peripheral blood lymphocytes and a hemizygous novel 8-bp deletion in exon 4 of RB1 in tumour sample were observed. In the unilaterally affected patient CGA to TGA transition protein truncation mutations were observed in exons 8 and 14 of RB1.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 13 / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA Methylation
  • DNA Mutational Analysis
  • DNA Primers
  • Exons
  • Female
  • Humans
  • Infant
  • Male
  • Mutation / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic / genetics
  • Retinoblastoma / ethnology
  • Retinoblastoma / genetics*
  • Retinoblastoma Protein / genetics*
  • Sequence Deletion


  • DNA Primers
  • Retinoblastoma Protein
  • DNA