Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI
Basic Medical Research Novel Point Mutation and Intronic Mutations of RB1 Gene in Retinoblastoma Patients in Indonesia
Dublin Core
Title
Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI
Basic Medical Research Novel Point Mutation and Intronic Mutations of RB1 Gene in Retinoblastoma Patients in Indonesia
Basic Medical Research Novel Point Mutation and Intronic Mutations of RB1 Gene in Retinoblastoma Patients in Indonesia
Subject
germline mutation, RB1 gene, retinoblastoma
Description
BACKGROUND Retinoblastoma (RB) is an inherited disorder caused by the RB1 gene
mutation in retinal cells or germline mutation. Identifying the specific mutation is
crucial for prognosis, inheritance risk assessment, and treatment planning. This study
aimed to identify the germline mutation in the RB1 gene in patients with RB and their
parents from the eastern part of Indonesia.
METHODS This observational analytic study recruited patients with RB and their
parents between 2016 and 2018 at Dr. Wahidin Sudirohusodo Hospital, Makassar,
Indonesia. The normal control subjects were children from the outpatient clinic at
the Department of Ophthalmology, Universitas Hasanuddin Hospital. Ophthalmic
examinations and peripheral blood tests were performed in RB patients, their parents,
and control subjects. Genomic DNA was isolated from blood leukocytes and amplified
using conventional PCR. Hotspot exons 8, 10, 14, 17, and 22 were screened for mutations
using the Sanger method.
RESULTS There were 21 patients with RB (16 unilateral and 5 bilateral) and 14 normal
subjects. Of the 184 variations detected in RB patients, 164 were also found in normal
subjects. 19 intronic mutations in introns 10, 16, 17, and 21, and 1 novel missense mutation
in exon 17 were identified. Parental testing revealed 8 substitutions in exon 17 and 5
intronic mutations in introns 16 and 17 of the parents. None of the variations in exons
were passed to their children.
mutation in retinal cells or germline mutation. Identifying the specific mutation is
crucial for prognosis, inheritance risk assessment, and treatment planning. This study
aimed to identify the germline mutation in the RB1 gene in patients with RB and their
parents from the eastern part of Indonesia.
METHODS This observational analytic study recruited patients with RB and their
parents between 2016 and 2018 at Dr. Wahidin Sudirohusodo Hospital, Makassar,
Indonesia. The normal control subjects were children from the outpatient clinic at
the Department of Ophthalmology, Universitas Hasanuddin Hospital. Ophthalmic
examinations and peripheral blood tests were performed in RB patients, their parents,
and control subjects. Genomic DNA was isolated from blood leukocytes and amplified
using conventional PCR. Hotspot exons 8, 10, 14, 17, and 22 were screened for mutations
using the Sanger method.
RESULTS There were 21 patients with RB (16 unilateral and 5 bilateral) and 14 normal
subjects. Of the 184 variations detected in RB patients, 164 were also found in normal
subjects. 19 intronic mutations in introns 10, 16, 17, and 21, and 1 novel missense mutation
in exon 17 were identified. Parental testing revealed 8 substitutions in exon 17 and 5
intronic mutations in introns 16 and 17 of the parents. None of the variations in exons
were passed to their children.
Creator
Batari Todja Umar, Ulfah Rimayanti, Halimah Pagarra, Budu, Nasrum Massi, Habibah Setyawati Muhiddin
Source
https://doi.org/10.13181/mji.oa.236544
Date
March 10, 2023
Contributor
peri irawan
Format
pdf
Language
english
Type
text
Files
Citation
Batari Todja Umar, Ulfah Rimayanti, Halimah Pagarra, Budu, Nasrum Massi, Habibah Setyawati Muhiddin, “Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI
Basic Medical Research Novel Point Mutation and Intronic Mutations of RB1 Gene in Retinoblastoma Patients in Indonesia,” Repository Horizon University Indonesia, accessed February 6, 2025, https://repository.horizon.ac.id/items/show/1085.
Basic Medical Research Novel Point Mutation and Intronic Mutations of RB1 Gene in Retinoblastoma Patients in Indonesia,” Repository Horizon University Indonesia, accessed February 6, 2025, https://repository.horizon.ac.id/items/show/1085.