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

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

Journal of Applied Genetics

1999

vol. 40

issue 3

233-239

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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1 Journal of Applied Genetics

1 1999

1 Cowell J. K.

1 Cragg H.

1 Gorsi B.

1 Jakubowska A.

1 Krzystolik Z.

1 Lubinski J.

1 Zajaczek S.

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