NR AXUG

AU Peletto,S.; Maniaci,M.G.; Grego,E.; Maurella,C.; Zuccon,F.; Riina,M.V.; Corvonato,M.; Colussi,S.; Caramelli,M.; Goldmann,W.; Acutis,P.L.

TI Sequence Variability of Noncoding Regions of the Prion Protein Gene in Italian BSE-affected and Control Cattle

QU International Conference - Prion 2007 (26.-28.9.2007) Edinburgh International Conference Centre, Edinburgh, Scotland, UK - Book of Abstracts: Epidemiology, Risk Assessment and Transmission P04.95

IA http://www.prion2007.com/pdf/Prion Book of Abstracts.pdf

PT Konferenz-Poster

AB Prion protein gene (PRNP) polymorphisms are known to modulate susceptibility to transmissible spongiform encephalopathies (TSE) in species such as humans and sheep changing the amino acid composition of the resulting prion protein. Nevertheless, no major association has been established between polymorphisms in the PRNP open reading frame (ORF) and bovine spongiform encephalopathy (BSE) infection in cattle. Previous reports for Swiss and German cattle suggested an association with BSE susceptibility of insertion/deletion (indel) sites outside the ORF: a 23-bp indel in the upper region of exon 1 and a 12-bp indel in the putative promoter region of intron 1. These polymorphisms are thought to influence PrP expression level thus playing an important role in BSE incubation time and/or susceptibility. In contrast, no difference was found in Japan for the allele frequencies of the 23-bp indel polymorphism between healthy and BSE-affected Holstein cattle. The aim of this study is to investigate PrP variability outside the ORF in Italian BSE affected cattle (n=50) and in a representative sample of control animals from BSE outbreaks (n=50) matching for breed and age. A genomic region of about 5.200 bp comprising the putative promoter region, exon 1, intron I and exon 2, has been analysed. The 23-bp and 12-bp insertion polymorphisms have been found in 58% and 68% of the positive animals, respectively. "Chi square" analysis comparing allele and genotype frequencies in the BSE affected group versus the negative sample group have been carried out in order to assess the relationship between PRNP polymorphisms and BSE status. The present work provides novel data about variations and distribution of the bovine PRNP gene in Italian BSE cases and control animals.

AD S. Peletto, M.G. Maniaci, C. Maurella, F. Zuccon, M.V. Riina, M. Corvonato, S. Colussi, M. Caramelli, P.L. Acutis, CEA - Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d'Aosta, Italy; E. Grego, Dipartimento di Produzioni Animali, Epidemiologia ed Ecologia - Facoltà di Medicina Veterinaria, Italy; W. Goldmann, Roslin Institute, Neuropathogenesis Unit, UK

SP englisch

PO Schottland

EA pdf-Datei

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