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 Kenneth Cowell, Jan Lubiński

Research output: Contribution to journalArticle

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

Fingerprint

Retinoblastoma
Exons
Retinoblastoma Genes
Mutation
DNA
Germ Cells
Genetic Recombination
Lymphocytes
Neoplasms

Keywords

  • Constitutional mutation
  • Large deletions
  • Retinoblastoma

ASJC Scopus subject areas

  • Genetics

Cite this

Zaja̧czek, S., Cragg, H., Jakubowska, A., Górski, B., Krzystolik, Z., Cowell, J. K., & Lubiński, J. (1999). Molecular analysis of a large novel constitutional deletion in a patient with sporadic unilateral retinoblastoma. Journal of Applied Genetics, 40(3), 233-239.

Molecular analysis of a large novel constitutional deletion in a patient with sporadic unilateral retinoblastoma. / Zaja̧czek, Stanisław; Cragg, Helen; Jakubowska, Anna; Górski, Bogdan; Krzystolik, Zofia; Cowell, John Kenneth; Lubiński, Jan.

In: Journal of Applied Genetics, Vol. 40, No. 3, 01.12.1999, p. 233-239.

Research output: Contribution to journalArticle

Zaja̧czek, S, Cragg, H, Jakubowska, A, Górski, B, Krzystolik, Z, Cowell, JK & Lubiński, J 1999, 'Molecular analysis of a large novel constitutional deletion in a patient with sporadic unilateral retinoblastoma', Journal of Applied Genetics, vol. 40, no. 3, pp. 233-239.
Zaja̧czek, Stanisław ; Cragg, Helen ; Jakubowska, Anna ; Górski, Bogdan ; Krzystolik, Zofia ; Cowell, John Kenneth ; Lubiński, Jan. / Molecular analysis of a large novel constitutional deletion in a patient with sporadic unilateral retinoblastoma. In: Journal of Applied Genetics. 1999 ; Vol. 40, No. 3. pp. 233-239.
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