Genetic Study Of Pocket A And B Domain Of RB1 Gene Among Malaysian Children With Retinoblastoma

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dc.contributor.authorAhmad Yusof@Hanafi, Hanani
dc.date.accessioned2018-06-08T07:21:01Z
dc.date.available2018-06-08T07:21:01Z
dc.date.issued2009-12
dc.description.abstractRetinoblastoma (RB) is the most common intraocular tumor mainly affecting children under four years of age, with a prevalence of 1 in 15 000 to 20 000 live births. Retinoblastoma is divided into hereditary and non-hereditary types. The development of this malignancy requires both alleles of the tumor suppressor gene RB1 to be knockedout. Recent studies found mutation occurred more frequently in the pocket A and B domain of RB1 gene. The present study was undertaken to identify the mutation in the pocket A and B domain of RB1 gene among retinoblastoma patients in Malaysia, and the association of the mutation to the laterality and stage of the tumor. DNA was extracted from 50 RB patients and 50 healthy volunteers (ethnically matched to the patient group) blood using commercial blood mini kit prior to PCR amplification which was performed for exon 12 to 22 of RB1 gene and its intronic flanking region. The PCR products were screened for mutation through DHPLC analysis and sample with mutation was subjected to DNA sequencing analysis. The ratio of boy to girl patient were 2 : 1, where 78% were Malays, 12% Indian and 10% Chinese. Most of the patients presented with leukocoria and unilateral (only one eye affected) retinoblastoma. The mean age at diagnosis of patients is 24.3 (16.9) [mean (SD)] months with an earlier diagnosis among the bilateral cases [19.47(19.99)]. Thirty-one patient and control subjects presented with mutation and single nucleotide polymorphism (SNP), which then were identified as single nucleotide substitution which are located at seven distinct intronic regions, where two of the mutations affected splice site region. Two novel mutations were identified (IVS13+184C>T and IVS17-133T>C) in both patient and control group. No significant association was found either between mutations and laterality or stage of the tumor. Significant association was found between IVS15-1G>A and patient of Chinese origin, while IVS13+184C>T, IVS17-133T>C and IVS19-77A>G were found to be associated with different ethnic groups in the control group.en_US
dc.identifier.urihttp://hdl.handle.net/123456789/5716
dc.language.isoenen_US
dc.publisherUniversiti Sains Malaysiaen_US
dc.subjectMutation occurred more frequently in theen_US
dc.subjectpocket A and B domain of RB1 geneen_US
dc.titleGenetic Study Of Pocket A And B Domain Of RB1 Gene Among Malaysian Children With Retinoblastomaen_US
dc.typeThesisen_US
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