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Updated: Jul 6, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Molecular mechanism of beta-thalassaemia caused by 22-bp duplication
Saovaros Svasti1, Chanikarn Boonchoy, Preeda Vanichsetakul
1Thalassaemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Salaya Campus, Phuttamonthon, Nakornpathom, Thailand.
Abstract:
A beta-thalassaemia mutation occurring from insertion of a duplicated 22-bp intron/exon junction of the beta-globin gene has been characterised. The repeated 22-bp insertion causes duplication of a 3' splice site at IVSI/exon 2 junction. Reverse transcription-polymerase chain reaction showed that the proximal 3' splice site present in the duplicated gene is used, leading to a frameshift and a premature chain termination at codon 37. beta-Globin messenger ribonucleic acid (mRNA) transcribed from the mutant gene was not detected, suggesting that the process of nonsense-mediated mRNA decay may be triggered by the premature stop codon.
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