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

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

Abstrakty

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.

Słowa kluczowe

EN

LARGE DELETION; MUTATION; RETINOBLASTOMA

• Czasopismo: Journal of Applied Genetics
• Rocznik: 1999
• Tom: 40
• Numer: 3
• Strony: 233-239

Twórcy

autor

S. Zajaczek

autor

H. Cragg

autor

A. Jakubowska

autor

B. Gorsi

autor

Z. Krzystolik

autor

J.K. Cowell

autor

J. Lubinski

• Typ dokumentu: article
• Bibliografia: S. Zajaczek, Department of Genetics and Pathology, Hereditary Cancer Centre, Pomeranian Medical University, Al. Powstancow Wlkp. 72, 70-111, Szczecin, Poland