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Journal of Veterinary Diagnostic Investigation Vol. 21 Issue 3, 295-305
Copyright © 2009 by the American Association of Veterinary Laboratory Diagnosticians
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Full Scientific Reports

Blood chimerism confounds genetic relative susceptibility testing for classical scrapie in sheep

David A. Schneider1, Ahmed Tibary, Terje Raudsepp, Pranab J. Das and Katherine I. O'Rourke

Correspondence: 1Corresponding Author: David A. Schneider, Animal Disease Research Unit, PO Box 646630, 3003 ADBF, Washington State University, Pullman, WA 99164-6630. das{at}vetmed.wsu.edu

Classical scrapie disease is a transmissible spongiform encephalopathy of sheep that is enzootic in the United States. Susceptibility of sheep to classical scrapie is linked to single nucleotide polymorphisms in the prion protein gene (PRNP), forming the basis for genetic testing strategies used by national efforts to eradicate scrapie. Such efforts are occasionally hampered by inconclusive results stemming from the detection of "complex" genotypes. Naturally occurring cases of ovine chimerism are thought to account for some of these instances. In the current report, 4 naturally occurring ovine chimeras are documented through cytogenetic and molecular analyses. All 4 of these sheep had chimeric cells circulating in their blood. Blood and alternate tissue samples of ear punch and hair bulbs from one of these chimeras was submitted in batch with similar samples from control sheep for routine scrapie genetic relative susceptibility testing. A complex PRNP genotype was detected in the blood of the chimeric female but not in the alternate tissue samples or in the control sheep samples. The results demonstrate that naturally occurring blood chimerism can confound current testing efforts. The potential impacts of undetected chimeras on current scrapie eradication efforts are discussed.

Key Words: Chimera • diagnostics • genotyping • microsatellite • PRNP • scrapie • sheep






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