A Study Of The Genetic Variations In N-Terminus, C-Terminus And Promoter Of Rb1 Gene Among Retinoblastoma Patients In Malaysia

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dc.contributor.authorHaji Draman @ Hashim, Siti Norulhuda
dc.date.accessioned2019-06-27T01:43:53Z
dc.date.available2019-06-27T01:43:53Z
dc.date.issued2012-05
dc.description.abstractRetinoblastoma (RB) is the most common primary intraocular tumor affecting mainly children under five years of age, with a prevalence of 1 in 15 000 to 20 000 live births. Retinoblastoma is divided into hereditary and sporadic types. It is caused by mutations or changes in RB1 gene, a tumor suppressor gene. The aim of this study is to detect mutations in N-terminus, C-terminus and promoter region of RB1 gene in retinoblastoma patients in Malaysia, as well as its association with staging and laterality of the patients. A total of 68 children with sporadic RB from Hospital Universiti Sains Malaysia (HUSM), Hospital Kuala Lumpur (HKL) and University Malaya Medical Centre (UMMC) and 68 healthy ethnic-matched controls were recruited. Venesection was done and 3cc of blood was taken. Tumor tissue samples were also collected from four patients. A total of 200μl DNA was extracted using commercially available extraction kit. PCR was conducted using self-designed primers for exons in N-terminus and C-terminus with its intronic flanking region, and promoter region of RB1 gene. Screening for mutations or polymorphisms for Nterminus was conducted using DHPLC analysis and direct sequence was done for Cterminus and promoter region. Male to female patient ratio was 2:1, where 79% were Malays, 12% Chinese and 9% Indian. Majority of our patients presented with leukocoria and unilateral involvement with no predilection to right or left eye. The mean age at diagnosis of patients was 23.42 (17.64) months. There was statistical significant difference between age of diagnosis and laterality of the disease (p=0.011). Bilateral RB was diagnosed earlier [17.68 (18.33) months) than unilateral RB [28.65 (15.46) months).en_US
dc.identifier.urihttp://hdl.handle.net/123456789/8416
dc.language.isoenen_US
dc.publisherUniversiti Sains Malaysiaen_US
dc.subjectThe genetic variations in n-terminus, c-terminusen_US
dc.subjectRB1 gene among retinoblastoma patients in Malaysiaen_US
dc.titleA Study Of The Genetic Variations In N-Terminus, C-Terminus And Promoter Of Rb1 Gene Among Retinoblastoma Patients In Malaysiaen_US
dc.typeThesisen_US
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