Skip to main content
SpringerLink
Log in

Genetic studies of antithrombin III with IEF and ASO hybridization

  • Short Communications
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

Antithrombin III (AT III) was analyzed by two different methods. Isoelectric focusing was used to screen 3 different populations (southwest Germans, Portuguese, Xavante Indians). The same variant was detected both in the German and the Portuguese populations with frequencies of 0.007 and 0.00024, respectively. Further characterization of this variant was performed by allele specific oligonucleotides. By this means, it was possible to identify the variant as AT III Dublin, originally found in 4 Irish families.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  • Beresford CH, Owen MC (1990) Antithrombin III. Int J Biochem 22:121–128

    Google Scholar 

  • Bock SC, Marrinan JA, Radziejewska E (1988) Antithrombin Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site. Biochemistry 27:6171–6178

    Google Scholar 

  • Daly M, O'Meara A, Hallinan FM (1987) Identification and characterization of a new antithrombin III familial variant (AT Dublin) with possible increased frequency in children with cancer. Br J Haematol 65:457–462

    Google Scholar 

  • Daly M, Bruce D, Perry DJ, Price J, Harper PL, O'Meara A, Carell RW (1990) Antithrombin Dublin (-3 VAL-GLU): an N-terminal variant which has an aberrant signal peptidase cleavage site. FEBS Lett 273:87–90

    Google Scholar 

  • Lane DA, Caso R (1989) Antithrombin: structure, genomic organization, function and inherited deficiency. Bailliere's Clin Haematol 2/4:961–998

    Google Scholar 

  • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215

    CAS  PubMed  Google Scholar 

  • Molho-Sabatier P, Aiach M, Gaillard I, Fiessinger J-N, Fischer A-M, Chadeuf G, Clauser E (1989) Molecular characterization of antithrombin III (AT III) variants using polymerase chain reaction. J Clin Invest 84:1236–1242

    Google Scholar 

  • Prochownik EV (1989) Molecular genetics of inherited antithrombin III deficiencies. Am J Med 87 [Suppl 3B]:15–18

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institut für Anthropologie und Humangenetik der Universität, Wilhelmstrasse 27, W-7400, Tübingen, Germany

    C. Dürr, A. Hinney, C. Luckenbach, J. Kömpf & H. Ritter

Authors
  1. C. Dürr
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. A. Hinney
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. C. Luckenbach
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. J. Kömpf
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. H. Ritter
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Dürr, C., Hinney, A., Luckenbach, C. et al. Genetic studies of antithrombin III with IEF and ASO hybridization. Hum Genet 90, 457–459 (1992). https://doi.org/10.1007/BF00220477

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00220477

Keywords

Search

Navigation