Publication: Molecular mechanism of β-thalassaemia caused by 22-bp duplication
2
Issued Date
2008-08-01
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ISSN
09395555
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2-s2.0-46949111521
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Mahidol University
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SCOPUS
Bibliographic Citation
Annals of Hematology. Vol.87, No.8 (2008), 633-637
Suggested Citation
Saovaros Svasti, Chanikarn Boonchoy, Preeda Vanichsetakul, Pranee Winichagoon, Suthat Fucharoen Molecular mechanism of β-thalassaemia caused by 22-bp duplication. Annals of Hematology. Vol.87, No.8 (2008), 633-637. doi:10.1007/s00277-008-0479-7 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/19586
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Title
Molecular mechanism of β-thalassaemia caused by 22-bp duplication
Abstract
A β-thalassaemia mutation occurring from insertion of a duplicated 22-bp intron/exon junction of the β-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. β-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. © Springer-Verlag 2008.