Splice-site and Frameshift Mutations of β-Globin Gene Found in Thalassemia Carrier Screening in Yogyakarta Special Region, Indonesia

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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Abstract

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
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

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