Molecular analysis of a large novel constitutional deletion in a patient with sporadic unilateral retinoblastoma

Stanisław Zaja̧czek, Helen Cragg, Anna Jakubowska, Bogdan Górski, Zofia Krzystolik, John K. Cowell, Jan Lubiński

Research output: Contribution to journalArticlepeer-review

Abstract

New Rb-1 gene mutation has been studied at sequence level in DNA of peripheral blood lymphocytes DNA. It is a large 137 bp germ-line de novo in-frame deletion involving nearly all of exons 15-16 in a patient with unilateral sporadic retinoblastoma. Analysis of molecular findings suggests that described mutation occurred by non-homologous recombination and slipped mispairing. Possibly this in-frame deletion limited to loss of exons 15-16 is associated with higher prevalence of unilateral tumours.

Original languageEnglish (US)
Pages (from-to)233-239
Number of pages7
JournalJournal of Applied Genetics
Volume40
Issue number3
StatePublished - Dec 1 1999
Externally publishedYes

Keywords

  • Constitutional mutation
  • Large deletions
  • Retinoblastoma

ASJC Scopus subject areas

  • Genetics

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