Association of a bovine proin gene haplotype with atypical BSE

Abstract

Background: A typical bovine spongiform encephalopathies (BSEs) are recently recognized prion diseases of cattle. A typical 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 polymorphism 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=1.3×10-4, two-tailed Fisher's exact test; Cl95% 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 unstranslated region of exon 3 (13 kb). Conclusions/significance: This result suggest that a genetic determitant in or near PRNP may influence susceptibility of cattle to atypical BSE.