NR AWLT
AU Peletto,S.; Perucchini,M.; Gilliland,S.; Mazza,M.; Corona,C.; Casalone,C.; Colussi,S.; Corvonato,M.; Caramelli,M.; Goldmann,W.; Acutis,P.L.
TI Prion protein (PrP) gene analysis of Italian atypical BSE cases (BASE)
QU International Conference - Prion 2006: Strategies, advances and trends towards protection of society - 3.10.-6.10.2006, Torino, Italy, Lingotto Conference Centre - Poster sessions GEN-23
PT Konferenz-Poster
AB In Italy a new atypical BSE phenotype, named BASE, has been identified in two animals. Since BASE displays biochemical and pathological similarities with sporadic CJD (sCJD) cases linked to type-2 PrPsc and methionine/valine (M/V) polymorphism at codon 129 in the PrP gene, it is possible that this disorder represents a sporadic form of cattle TSE. This would also explain the fact that BASE cases were older than other affected bovines. We have previously sequenced the open reading frame (ORF) of BASE cases: one animal carried a wild-type PrP genotype and was homozygous for octapeptide repeat number with six copies while the other one carried a silent mutation at codon 78 (CAG/CAA) and was heterozygous for six/seven repeats. No mutation exclusive to BASE have been then identified in the coding region. Aim of this study was the identification of informative PrP gene polymorphisms by extending the analysis outside the ORF. A 2 kb prion gene fragment including part of intron II, the PrP coding region and part of the 3' untranslated region (3'UTR) was amplified and sequenced in the two BASE cases, a healthy age-matched control (> 10 years) and three animals carrying different number of octapeptide repeat units, ranging from five to seven repeats. Four single nucleotide polymorphisms (SNP) were identified (reference sequence AJ298878): an intronic base substitution (65165 T>C) and three point mutations in the 3'UTR (66877 C>T, 66932 A>G, 66948 T>C). Alleles were assessed by haplotype cloning in a plasmid vector and sequencing of recombinant clones. Both BASE and healthy animals included in our study were polymorphic at the detected mutation sites. Only one mutation in the 3'UTR (66948 T>C) was found exclusively in the BASE case homozygous for six repeats.
AD S. Peletto, M. Mazza, C. Corona, C. Casalone, S. Colussi, M. Corvonato, M. Caramelli, P.L. Acutis: Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d'Aosta, TSE National Reference Laboratory (CEA), Turin, Italy; M. Perucchini, S. Gilliland, W. Goldmann: Institute for Animal Health, Neuropathogenesis Unit, Edinburgh, UK. E-mail: s.peletto@tin.it
SP englisch
PO Italien