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

Stanisław Zaja̧czek; Helen Cragg; Anna Jakubowska; Bogdan Górski; Zofia Krzystolik; John K. Cowell; Jan Lubiński

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

Stanisław Zaja̧czek
, Helen Cragg
, Anna Jakubowska
, Bogdan Górski
, Zofia Krzystolik
, John K. Cowell
, Jan Lubiński

Research output: Contribution to journal › Article › peer-review

Abstract

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)
Pages (from-to)	233-239
Number of pages	7
Journal	Journal of Applied Genetics
Volume	40
Issue number	3
State	Published - 1999
Externally published	Yes

Keywords

Constitutional mutation
Large deletions
Retinoblastoma

ASJC Scopus subject areas

Genetics

Cite this

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title = "Molecular analysis of a large novel constitutional deletion in a patient with sporadic unilateral retinoblastoma",

abstract = "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 = "Constitutional mutation, Large deletions, Retinoblastoma",

author = "Stanis{\l}aw Zaj{\c a}czek and Helen Cragg and Anna Jakubowska and Bogdan G{\'o}rski and Zofia Krzystolik and Cowell, \{John K.\} and Jan Lubi{\'n}ski",

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AU - Zaja̧czek, Stanisław

AU - Cragg, Helen

AU - Jakubowska, Anna

AU - Górski, Bogdan

AU - Krzystolik, Zofia

AU - Cowell, John K.

AU - Lubiński, Jan

PY - 1999

Y1 - 1999

N2 - 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.

AB - 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.

KW - Constitutional mutation

KW - Large deletions

KW - Retinoblastoma

UR - https://www.scopus.com/pages/publications/0347803035

UR - https://www.scopus.com/pages/publications/0347803035#tab=citedBy

M3 - Article

AN - SCOPUS:0347803035

SN - 1234-1983

VL - 40

SP - 233

EP - 239

JO - Journal of Applied Genetics

JF - Journal of Applied Genetics

IS - 3

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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