Two new mutations and three novel polymorphisms in the RB1 gene in Ecuadorian patients

J Hum Genet. 2003;48(12):639-641. doi: 10.1007/s10038-003-0092-5. Epub 2003 Nov 19.


RB1 is the gene responsible for retinoblastoma, the most common malignant intraocular tumor of infancy and early childhood. There are no reports about this gene in Ecuadorian populations, and only a few studies have been published in Latin America about this subject. There is a spectrum of more than 370 mutations described in the RB1 gene mutation database (, and alterations have been found in 25 of the 27 exons. During the exon-by-exon analysis of 31 tumor and blood samples from Ecuadorian patients, we found two new mutations and three novel polymorphisms. One of the polymorphisms is located in intron 26 where no alterations of the gene have been described previously. The polymorphisms were found in all of the patients' tumor samples, but not in normal population, suggesting there might be a relationship between these polymorphisms and the development of retinoblastoma in the Ecuadorian population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Databases as Topic
  • Ecuador
  • Exons
  • Eye Neoplasms / genetics
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Introns
  • Mutation*
  • Mutation, Missense
  • Polymorphism, Genetic*
  • Retinoblastoma / genetics*
  • Retinoblastoma Protein / genetics*
  • Sequence Analysis, DNA


  • Retinoblastoma Protein