Handayani, Niken Satuti Nur and Husna, Nailil and Rahmil, Gunawan and Ghifari, Riris Anindya and Widyawati, Lily and Lesmana, Indra (2021) Splice-site and Frameshift Mutations of β-Globin Gene Found in Thalassemia Carrier Screening in Yogyakarta Special Region, Indonesia. Indonesian Biomedical Journal, 13 (1). 55 – 60. ISSN 20853297
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BACKGROUND: β-thalassemia is an inherited blood disorder that relatively common in Southeast Asian countries. In Indonesia, it is estimated that 200,000 infants with thalassemia carrier born each year. Mutation causing β-thalassemia is highly varied and relatively specific in a population. This study aimed to identify the mutations responsible for β-thalassemia from Thalassemia Carrier Screening conducted in Yogyakarta Special Region. This information is beneficial for developing a strategic prevention program to control thalassemia in the region. METHODS: Twenty-eight blood samples of haematologically suspected β-thalassemia from participant of thalassemia screening program in Yogyakarta Special Region were investigated for β-globin gene mutation by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), amplification refractory mutation system (ARMS) and DNA sequencing. RESULTS: Our samples showed average HbA2 value of 5±0.81 and HbF value of 2±2.29. It showed eight abnormal erythrocyte morphologies dominated by hypochromia (96.4), cigar cell (85.7), and microcytosis (78.6). Our molecular investigation identified three splice-site mutations namely InterVening Sequence (IVS)- 1-5 (G>C) (71.4), IVS-1-2 (T>C) (7.1), and IVS-1-1 (G>T) (3.6), two frameshift mutations that are CD35 (-C) (10.7) and CD8/9 (+G) (3.6), and a missense mutation of CD6 (GAG>GTG) (3.6). CONCLUSION: Our study concluded on a high prevalence of IVS-1-5 (G>C) mutation in Yogyakarta Special Region. This mutation information is significant for developing a strategic prevention program to control thalassemia in the region, for example for developing a rapid molecular test for future screening program. © 2021. All rights reserved.
Item Type: | Article |
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Additional Information: | Cited by: 4; All Open Access, Gold Open Access |
Uncontrolled Keywords: | β-Globin gene, thalassemia, screening, carrier, mutation, Yogyakarta |
Subjects: | Q Science > QH Natural history Q Science > QH Natural history > QH301 Biology |
Divisions: | Faculty of Biology > Undergratuate Program in Biology |
Depositing User: | Sri JUNANDI |
Date Deposited: | 20 Sep 2024 08:36 |
Last Modified: | 20 Sep 2024 08:36 |
URI: | https://ir.lib.ugm.ac.id/id/eprint/4785 |