原创力文档association analysis of prnp gene region with chronic wasting disease in rocky mountain elk协会分析prnp基因区域落基山麋鹿的慢性消耗性疾病.pdfVIP
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association analysis of prnp gene region with chronic wasting disease in rocky mountain elk协会分析prnp基因区域落基山麋鹿的慢性消耗性疾病
White et al. BMC Research Notes 2010, 3:314
/1756-0500/3/314
SHORT REPORT Open Access
Association analysis of PRNP gene region with
chronic wasting disease in Rocky Mountain elk
1,2,3* 4 1 1,2
Stephen N White , Terry R Spraker , James O Reynolds , Katherine I O’Rourke
Abstract
Background: Chronic wasting disease (CWD) is a transmissible spongiform encephalopathy (TSE) of cervids
including white-tailed (Odocoileus virginianus) and mule deer (Odocoileus hemionus), Rocky Mountain elk (Cervus
elaphus nelsoni), and moose (Alces alces). A leucine variant at position 132 (132L) in prion protein of Rocky
Mountain elk confers a long incubation time with CWD, but not complete resistance. However, variants in
regulatory regions outside the open reading frame of PRNP have been associated with varying degrees of
susceptibility to prion disease in other species, and some variants have been observed in similar regions of Rocky
Mountain elk PRNP. Thus, additional genetic variants might provide increased protection, either alone or in
combination with 132L.
Findings: This study provided genomic sequence of all exons for PRNP of Rocky Mountain elk. Many functional
sites in and around the PRNP gene region were sequenced, and this report approximately doubled (to 75) the
number of known variants in this region. A haplotype-tagging approach was used to reduce the number of
genetic variants required to survey this variation in the PRNP gene region of 559 Rocky Mountain elk. Eight
haplotypes were observed with frequencies over 1.0%, and one haplotype was present at 71.2% frequency,
reflecting limited genetic diversity in the PRNP gene region.
Conclusions: The presence of 132L cut odds of CWD by more than half (Odds Ratio = 0.43; P
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