Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 1
201
Views
7
CrossRef citations to date
0
Altmetric
Original Article

In vitro Characterization of the α-Thalassemia Point Mutation HBA2:c.95+1G>A [IVS-I-1(G>A) (α2)]

, &
Pages 38-46 | Received 07 Jan 2011, Accepted 18 May 2011, Published online: 03 Oct 2011

REFERENCES

  • Bernini LF, Harteveld CL. α-Thalassaemia. Bailliére’s Clin Haematol. 1998;11(1):53–90.
  • Harteveld CL, Higgs DR. α-Thalassaemia. Orphanet J Rare Dis. 2010;5:13.
  • Eng B, Walker L, Waye JS. α+-Thalassemia trait caused by a nonsense mutation in the α2-globin gene: codon 54 (CAG>TAG). Hemoglobin. 2009;33(1):72–74.
  • Giordano P, Personal communication in HbVar. Patrinos G, Giardine B, Riemer C, Miller W, Chui D, Anagnou N, Wajcman H, Hardison R. 2004. HBA2:c.95+5G>A ‘Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies’. Nucleic Acids Research 32:D537–D541.
  • Harteveld CL, Heister JG, Giordano PC, An IVS1-116 (A→G) acceptor splice site mutation in the α2 globin gene causing α+ thalassaemia in two Dutch families. Br J Haematol. 1996;95(3):461–466.
  • Harteveld CL, Jebbink MC, van der Lely N, α-Thalassemia phenotype induced by the new IVS-II-2 (T→A) splice donor site mutation on the α2-globin gene. Hemoglobin. 2006;30(1):3–7.
  • Çürük MA, Baysal E, Gupta RB, Sharma S, Huisman THJ. An IVS-I-117 (G→A) acceptor splice site mutation in the α1-globin gene is a nondeletional α-thalassaemia-2 determinant in an Indian population. Br J Haematol. 1993;85(1):148–152.
  • Orkin SH, Goff SC, Hechtman RL. Mutation in an intervening sequence splice junction in man. Proc Natl Acad Sci USA. 1981;78(8):5041–5045.
  • Felber BK, Orkin SH, Hamer DH. Abnormal RNA splicing causes one form of α thalassemia. Cell. 1982;29(3):895–902.
  • Joly P, Personal communication in HbVar. Patrinos G, Giardine B, Riemer C, Miller W, Chui D, Anagnou N, Wajcman H, Hardison R. 2004. HBA2:c.95+5G>A ‘Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies’. Nucleic Acids Research 32:D537–D541.
  • Mabon SA, Misteli T. Differential recruitment of pre-mRNA splicing factors to alternatively spliced transcripts in vivo. PLoS Biol. 2005;3(11):e374.
  • Strachan T, Read A. Human Molecular Genetics 3, 3rd ed. New York: Garland Science, 2004.
  • Rogan PK, Faux BM, Schneider TD. Information analysis of human splice site mutations. Hum Mutat. 1998;12(3):153–171.
  • Faustino NA, Cooper TA. Pre-mRNA splicing and human disease. Genes Dev. 2003;17(4):419–437.
  • Waye JS, Eng B, Dutly F, Frischknecht H. α-Thalassemia caused by two novel splice mutations of the α2-globin gene: IVS-I-1 (G>A and G>T). Hemoglobin. 2009;33(6):519–522.
  • Hebsgaard SM, Korning PG, Tolstrup N, Engelbrecht J, Rouze P, Brunak S. Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res. 1996;24(17):3439–3452.
  • Makrides SC. Components of vectors for gene transfer and expression in mammalian cells. Protein Expr Purif. 1999;17(2):183–202.
  • Fujihara N, Yamauchi K, Hirota-Kawadobora M, In vitro expression of β-thalassaemia gene (IVS1-1G>C) reveals complete inactivation of the normal 5′ splice site and alternative aberrant RNA splicing. Ann Clin Biochem. 2007;44(Pt. 6):573–578.
  • Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet. 2002;3(4):285–298.
  • Ward AJ, Cooper TA. The pathobiology of splicing. J Pathol. 2010;220(2):152–163.
  • Pereira FJ, do Ceu Silva M, Picanco I, Human α2-globin nonsense-mediated mRNA decay induced by a novel α-thalassaemia frameshift mutation at codon 22. Br J Haematol. 2006;133(1):98–102.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.