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The 4-bp deletion (-AAAC) in the 5′ untranslated region of the β-globin gene: a simple polymorphism?

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References

  1. Van de Water N, Tan T, Chan G et al (2008) A +8 (CT) Mutation within the 5′ untranslated region of beta-globin down-regulates the mRNA transcription. Hemoglobin 32:247–253 doi:10.1080/03630260701798375

    Article  PubMed  Google Scholar 

  2. Athanassiadou A, Papachatzopoulou A, Zoumbos N et al (1994) A novel beta-thalassaemia mutation in the 5′ untranslated region of the β-globin gene. Br J Haematol 88:307–310 doi:10.1111/j.1365-2141.1994.tb05023.x

    Article  PubMed  CAS  Google Scholar 

  3. Gonzalez-Redondo JM, Stoming TA, Kutlar A et al (1989) A C → T substitution at nt-101 in a conserved DNA sequence of the promotor region of the β-globin gene is associated with "silent" β-thalassemia. Blood 73:1705–1711

    PubMed  CAS  Google Scholar 

  4. Oner R, Agarwal S, Dimovski AJ et al (1991) The G → A mutation at position +22 3′ to the Cap site of the β-globin gene as a possible cause for a beta-thalassemia. Hemoglobin 15:67–76 doi:10.3109/03630269109072485

    Article  PubMed  CAS  Google Scholar 

  5. Ho PJ, Rochette J, Fisher CA et al (1996) Moderate reduction of β-globin gene transcript by a novel mutation in the 5′ untranslated region: a study of its interaction with other genotypes in two families. Blood 87:1170–1178

    PubMed  CAS  Google Scholar 

  6. Huang SZ, Xu YH, Zeng FY et al (1991) A novel β-thalassaemia mutation: deletion of 4 bp (-AAAC) in the 5′ transcriptional sequence. Br J Haematol 78:125–126 doi:10.1111/j.1365-2141.1991.tb04396.x

    Article  PubMed  CAS  Google Scholar 

  7. De Angioletti M, Lacerra G, Sabato V et al (2004) β +45 G → C: a novel silent β-thalassaemia mutation, the first in the Kozak sequence. Br J Haematol 124:224–231 doi:10.1046/j.1365-2141.2003.04754.x

    Article  PubMed  Google Scholar 

  8. Francès V, Morlé F, Godet J (1993) Functional analysis of the 4 bp deletion identified in the 5′ untranslated region of one of the beta-globin genes from a Chinese beta-thalassaemic heterozygote. Br J Haematol 84:163–165 doi:10.1111/j.1365-2141.1993.tb03041.x

    Article  PubMed  Google Scholar 

  9. Sgourou A, Routledge S, Antoniou M et al (2004) Thalassaemia mutations within the 5′UTR of the human beta-globin gene disrupt transcription. Br J Haematol 124:828–835 doi:10.1111/j.1365-2141.2004.04835.x

    Article  PubMed  CAS  Google Scholar 

  10. Beris P, Deutsch S, Darbellay R (2004) Molecular pathology of thalassemia intermedia. Hematol J 3:S199–S204 doi:10.1038/sj.thj.6200453

    Article  Google Scholar 

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This work was partially supported by grants from National Key technology R&D program 2006 BAI05A05.

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Correspondence to Can Liao.

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Li, DZ., Liao, C., Li, J. et al. The 4-bp deletion (-AAAC) in the 5′ untranslated region of the β-globin gene: a simple polymorphism?. Ann Hematol 88, 709–710 (2009). https://doi.org/10.1007/s00277-008-0651-0

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  • DOI: https://doi.org/10.1007/s00277-008-0651-0

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