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Association of a bovine prion gene haplotype with atypical BSE.


ABSTRACT: 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.

SUBMITTER: Clawson ML 

PROVIDER: S-EPMC2263129 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature

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<h4>Background</h4>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.<h4>Methodology/principle findings</h4>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 hap  ...[more]

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