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

• Authors: S. Zajaczek , H. Cragg , A. Jakubowska , B. Gorsi , Z. Krzystolik , J.K. Cowell , J. Lubinski

Abstracts

EN

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.

Keywords

EN

LARGE DELETION; MUTATION; RETINOBLASTOMA

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 1999
• Volume: 40
• Issue: 3
• Pages: 233-239

Contributors

author

S. Zajaczek

author

H. Cragg

author

A. Jakubowska

author

B. Gorsi

author

Z. Krzystolik

author

J.K. Cowell

author

J. Lubinski

• Document Type: article
• Publication order reference: S. Zajaczek, Department of Genetics and Pathology, Hereditary Cancer Centre, Pomeranian Medical University, Al. Powstancow Wlkp. 72, 70-111, Szczecin, Poland