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 language||English (US)|
|Number of pages||7|
|Journal||Journal of Applied Genetics|
|Publication status||Published - Dec 1 1999|
- Constitutional mutation
- Large deletions
ASJC Scopus subject areas