PLoS ONE (Jan 2008)

Association of a bovine prion gene haplotype with atypical BSE.

  • Michael L Clawson,
  • Juergen A Richt,
  • Thierry Baron,
  • Anne-Gaëlle Biacabe,
  • Stefanie Czub,
  • Michael P Heaton,
  • Timothy P L Smith,
  • William W Laegreid

DOI
https://doi.org/10.1371/journal.pone.0001830
Journal volume & issue
Vol. 3, no. 3
p. e1830

Abstract

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BACKGROUND: Atypical bovine spongiform encephalopathies (BSEs) are recently recognized prion diseases of cattle. Atypical BSEs are rare; approximately 30 cases have been identified worldwide. We tested prion gene (PRNP) haplotypes for an association with atypical BSE. METHODOLOGY/PRINCIPLE FINDINGS: Haplotype tagging polymorphisms that characterize PRNP haplotypes from the promoter region through the three prime untranslated region of exon 3 (25.2 kb) were used to determine PRNP haplotypes of six available atypical BSE cases from Canada, France and the United States. One or two copies of a distinct PRNP haplotype were identified in five of the six cases (p = 1.3 x 10(-4), two-tailed Fisher's exact test; CI(95%) 0.263-0.901, difference between proportions). The haplotype spans a portion of PRNP that includes part of intron 2, the entire coding region of exon 3 and part of the three prime untranslated region of exon 3 (13 kb). CONCLUSIONS/SIGNIFICANCE: This result suggests that a genetic determinant in or near PRNP may influence susceptibility of cattle to atypical BSE.