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Title: Evaluation of constitutional mutation frequencies within the RB1 gene in sporadic retinoblastoma forms


Retinoblastoma is a malignant tumor, originating from immature retina and occurs with the frequency of 1 to 20 000 live births. Mutations affecting tumor suppressive function of the RB1 gene, localized on chromosome 13q14.2, are the main causes for retinoblastoma development. The tumor develops as a result of functional or/and structural integrity loss in both RB1 gene alleles. The aim of this study was to find, characterize and estimate the prevalence of constitutional mutations in sporadic cases of retinoblastoma patients. The study group composed of 44 patients with sporadic retinoblastoma; 23 of them with bilateral and 21 with unilateral tumor. The application of screening methods such as SSCP, CSGE, DHPLC with sequencing has allowed to discover 11 mutations (47,8%) in the group with bilateral retinoblastoma and 1 mutation (4,8%) in the group with unilateral retinoblastoma. There were 4 in-exon deletions, 5 splice site mutations and 2 nonsense mutations characterized among 11 mutations from the group of bilateral cases. These mutations were localized in the sequence fragments encoding the pocket of Rb1 protein (A and B domains). The mutation identified in the patient with unilateral retinoblastoma was a substitution in the RB1 gene promoter region. The g.DNA70330G>A mutation has been found three times in this study, suggesting that it might be one of the so-called ‘hot spots’ in the RB1 gene. Three out of twelve mutations (160771-160778delTATAGACC, 161996-161999delGACA, 162014delG) have not been previously reported.

Level of degree:

2 - studia doktoranckie

Degree discipline:

okulistyka ; biologia molekularna ; onkologia ; pediatria

Degree grantor:

Wydział Lekarski


Jacek J. Pietrzyk

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tylko w bibliotece

Location of original object:

Biblioteka Medyczna Uniwersytetu Jagiellońskiego - Collegium Medicum

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Last modified:

Sep 4, 2019

In our library since:

Nov 21, 2012

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Edition name Date
ZB-109872 Sep 4, 2019


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