Acta Neuropathologica

, Volume 97, Issue 4, pp 355–358

Genotyping of the prion protein gene at codon 129

Authors

  • Klaus Zimmermann
    • Hyland-Immuno Division, Baxter Healthcare, Vienna, Austria
  • Peter L. Turecek
    • Hyland-Immuno Division, Baxter Healthcare, Vienna, Austria
  • Hans Peter Schwarz
    • Hyland-Immuno Division, Baxter Healthcare, Vienna, Austria
Regular paper

DOI: 10.1007/s004010050998

Cite this article as:
Zimmermann, K., Turecek, P. & Schwarz, H. Acta Neuropathol (1999) 97: 355. doi:10.1007/s004010050998

Abstract

Sporadic, iatrogenic and new variant forms of Creutzfeldt-Jakob disease are associated with a predisposition for disease depending on a homozygosity at amino acid residue 129 of the prion protein gene (PRNP). A novel polymerase chain reaction/restriction digestion assay to screen for this polymorphism was developed and proved after comparison with a previously used method to be advantageous. Furthermore, for prevention of incorrect results an internal control for the restriction digestion was constructed. The feasibility of this method was tested in a cohort of 300 healthy Caucasian subjects. Of this normal population, 48.7% were heterozygous at codon 129, 43% homozygous for methionine and 8.3% for valine.

Key words GenotypePrionsgeneticsPolymerase chain reaction

Copyright information

© Springer-Verlag Berlin Heidelberg 1999