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Molecular mechanism of β-thalassaemia caused by 22-bp duplication

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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.

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Funding

This study was supported by the Thailand Research Fund grant number RTA480003 to S.F. as a Senior Research Scholar.

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Authors and Affiliations

  1. Thalassaemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Salaya Campus, 25/25 Phuttamonthon 4 Rd, Phuttamonthon, Nakornpathom, 73170, Thailand

    Saovaros Svasti, Pranee Winichagoon & Suthat Fucharoen

  2. Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok, Thailand

    Saovaros Svasti

  3. Central Equipment Laboratory, Institute of Science and Technology for Research and Development, Mahidol University, Nakornpathom, Thailand

    Chanikarn Boonchoy

  4. Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand

    Preeda Vanichsetakul

Authors
  1. Saovaros Svasti
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  2. Chanikarn Boonchoy
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  3. Preeda Vanichsetakul
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  4. Pranee Winichagoon
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  5. Suthat Fucharoen
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Corresponding author

Correspondence to Suthat Fucharoen.

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Svasti, S., Boonchoy, C., Vanichsetakul, P. et al. Molecular mechanism of β-thalassaemia caused by 22-bp duplication. Ann Hematol 87, 633–637 (2008). https://doi.org/10.1007/s00277-008-0479-7

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  • DOI: https://doi.org/10.1007/s00277-008-0479-7

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