Molecular analysis of a large novel constitutional deletion in a patient with sporadic unilateral retinoblastoma
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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.
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S. Zajaczek, Department of Genetics and Pathology, Hereditary Cancer Centre, Pomeranian Medical University, Al. Powstancow Wlkp. 72, 70-111, Szczecin, Poland