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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Date
2012-05
Authors
Haji Draman @ Hashim, Siti Norulhuda
Journal Title
Journal ISSN
Volume Title
Publisher
Universiti Sains Malaysia
Abstract
Retinoblastoma (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).
Description
Keywords
The genetic variations in n-terminus, c-terminus , RB1 gene among retinoblastoma patients in Malaysia