作者: Michael P Heaton , John W Keele , Gregory P Harhay , Jürgen A Richt , Mohammad Koohmaraie
关键词: Genetic variation 、 Gene 、 Genetics 、 Allele frequency 、 Haplotype 、 Coding region 、 PRNP 、 Bovine spongiform encephalopathy 、 Virology 、 Biology 、 Mutation
摘要: Background In 2006, an atypical U.S. case of bovine spongiform encephalopathy (BSE) was discovered in Alabama and later reported to be polymorphic for glutamate (E) lysine (K) codons at position 211 the prion protein gene (Prnp) coding sequence. A E211K mutation is important because it analogous most common pathogenic humans (E200K) which causes hereditary Creutzfeldt – Jakob disease, autosomal dominant form disease. The present report describes a high-throughput matrix-associated laser desorption/ionization-time-of-flight mass spectrometry assay scoring Prnp variant its use determine upper limit K211 allele frequency cattle.