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Human β2-glycoprotein I: molecular analysis of DNA and amino acid polymorphism

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Abstract

In this study, we describe a two-allelic RsaI restriction fragment length polymorphism identified by Southern blot analysis and by allele-specific polymerase chain reaction amplification for the human β2-glycoprotein I (β2-I; apolipoprotein H=APOH) gene. This polymorphism, which segregates in a co-dominant fashion, leads to a valine-leucine amino acid exchange at amino acid position 247. The allele frequency has been established in 34 unrelated parents of the Centre d'Etude du Polymorphisme Humain family panel and was found to be 0.76 for valine and 0.23 for leucine. The Val-Leu polymorphism described in this study does not correlate with the four isoelectric focusing alleles previously described, indicating that other variants are responsible for this polymorphism.

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Authors and Affiliations

  1. MRC Immunochemistry Unit, Department of Biochemistry, University of Oxford, South Parks Road, OX1 3QU, Oxford, UK

    Alexander Steinkasserer & Robert B. Sim

  2. Abteilung für Pädiatrische Genetik der Kinderpoliklinik, Universität München, Goethestrasse 29, W-8000, München 2, Germany

    Christa Dörner

  3. MRC Molecular Immunopathology Unit, MRC Centre, Hills Road, CB2 2QH, Cambridge, UK

    Reinhard Würzner

Authors
  1. Alexander Steinkasserer
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  2. Christa Dörner
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  3. Reinhard Würzner
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  4. Robert B. Sim
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Steinkasserer, A., Dörner, C., Würzner, R. et al. Human β2-glycoprotein I: molecular analysis of DNA and amino acid polymorphism. Hum Genet 91, 401–402 (1993). https://doi.org/10.1007/BF00217367

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  • DOI: https://doi.org/10.1007/BF00217367

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