[Spectrum and frequencies of RB1 gene structural defects in retinoblastoma]

Mol Biol (Mosk). 2002 Jul-Aug;36(4):623-9.
[Article in Russian]


The spectrum and frequencies of RB1 structural defects were studied in tumors and peripheral blood lymphocytes of patients with various forms of retinoblastoma. Single strand conformation polymorphism (SSCP) and heteroduplex (HA) analyses, along with direct sequencing, revealed 47 mutations, including 24 new ones. Of these, 42.5% were nonsense mutations, 15% were missense mutations, 15% affected splicing sites, and 27.5% were frameshifts resulting from microdeletions or microinsertions. Six polymorphisms were found, including three new ones located in the coding region. Microsatellite analysis with markers Rbint2, Rbint20, D13S262, and D13S284 revealed a loss of heterozygosity for at least one marker in 71% tumors.

Publication types

  • English Abstract

MeSH terms

  • Alternative Splicing
  • DNA / blood
  • DNA, Neoplasm
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Loss of Heterozygosity
  • Microsatellite Repeats
  • Mutation*
  • Pedigree
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational
  • Retinal Neoplasms / genetics*
  • Retinoblastoma / diagnosis
  • Retinoblastoma / genetics*
  • Retinoblastoma Protein / genetics*


  • DNA, Neoplasm
  • Retinoblastoma Protein
  • DNA