Document Detail

DNA polymorphisms of the prion doppel gene region in four different German cattle breeds and cows tested positive for bovine spongiform encephalopathy.
MedLine Citation:
PMID:  16284804     Owner:  NLM     Status:  MEDLINE    
Polymorphisms of the prion protein gene PRNP have been shown to influence the susceptibility/resistance to prion infections in human and sheep. In addition, the T174M polymorphism within the flanking prion doppel gene (PRND) was thought to be involved in susceptibility to sporadic Creutzfeldt-Jacob disease. To study a possible influence of DNA polymorphisms of the bovine PRND gene in bovine spongiform encephalopathy (BSE), previously identified and newly isolated DNA polymorphisms were genotyped in all available German cattle that tested positive for BSE. Genotypes and calculated haplotypes were compared with breeding bulls serving as controls. Analysis of the four major breeds Schwarzbunt (Holstein Friesian), Rotbunt (Holstein Red), Fleckvieh (Simmental), and Braunvieh (Swiss Brown) resulted in the isolation of the previously known polymorphisms R50H and R132Q and two novel synonymous single nucleotide polymorphisms (SNPs) C4820T and A5063T. Comparative genotype and haplotype analysis of BSE and control animals revealed a significantly different distribution of polymorphisms C4815T and R132Q in Fleckvieh animals but not in the other breeds tested. No association to BSE susceptibility was detectable for polymorphisms R50H and A5063T.
N Balbus; A Humeny; K Kashkevich; I Henz; C Fischer; C-M Becker; K Schiebel
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2005-11-11
Journal Detail:
Title:  Mammalian genome : official journal of the International Mammalian Genome Society     Volume:  16     ISSN:  0938-8990     ISO Abbreviation:  Mamm. Genome     Publication Date:  2005 Nov 
Date Detail:
Created Date:  2005-11-14     Completed Date:  2005-12-12     Revised Date:  2006-11-28    
Medline Journal Info:
Nlm Unique ID:  9100916     Medline TA:  Mamm Genome     Country:  United States    
Other Details:
Languages:  eng     Pagination:  884-92     Citation Subset:  IM    
Institut für Biochemie, Emil-Fischer-Zentrum, Universität Erlangen-Nürnberg, Fahrstrasse 17, Erlangen, Germany.
Data Bank Information
Bank Name/Acc. No.:
OMIM/123400;  600072
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MeSH Terms
Amyloid / genetics
DNA / genetics*
Encephalopathy, Bovine Spongiform / genetics*
Genetic Predisposition to Disease / genetics*
Polymorphism, Genetic*
Polymorphism, Single Nucleotide
Prions / genetics*
Protein Precursors / genetics
Species Specificity
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Reg. No./Substance:
0/Amyloid; 0/PRNP protein, human; 0/Prions; 0/Protein Precursors; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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