NR AWAT
AU Acutis,P.L.; Colussi,S.; Riina,M.V.; Maniaci,M.G.; Peletto,S.; Zuccon,F.; Biagetti,M.; Di Marco,V.; Lorenzetti,R.; Di Ventura,M.; Ru,G.; Maurella,C.; Caramelli,M.
TI A case-control study on the association of codon 222 polymorphism with resistance to scrapie in Italian goats using the pyrosequencing technique
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-02
PT Konferenz-Poster
AB Recently an association with resistance to scrapie of the glutamine to lysine mutation at codon 222 was found in Italian goats by Acutis et al. (2006), in a case-control study on 177 goats from six scrapie outbreaks. Aim of the present work was to extend that previous case-control study, analysing a higher number of goats and outbreaks, to better assess the possible protective role of the mutation K222. To achieve this objective we set up a protocol to determine the genotype at codon 222 using the high throughput Pyrosequencing technique. We designed a pair of primers amplifying a 237pb fragment including codon 222. The sequencing primer for the Pyrosequencing assay was designed using the SNP Primer Design Software (Pyrosequencing, AB). The assay was validated analysing 253 goat samples previously sequenced with an automated sequencer (194 samples Q/Q at codon 222; 50 Q/K and 9 K/K): all the samples were correctly identified. The new technique was then applied to analyse 582 goats (34 positive and 548 negative) from 15 scrapie outbreaks. In this sample also the 177 animals from the previous study were included. We found 484 goats Q/Q at codon 222 2 (83,2%), 91 Q/K (15,6%) and 7 K/K (1,2%). All the positive animals were Q/Q. A test was performed comparing the frequencies of genotypes between cases and controls: Q/K and K/K were combined in a single group. A significant association of K222 with the scrapie negative status was found (2=6.09 p-value=0.0136). The possible protective role of K222 in Italian goats has then been confirmed, with a statistical association stronger than that found in the previous case-control study.
AD P.L. Acutis, S. Colussi, M.V. Riina, M.G. Maniaci, S. Peletto, F. Zuccon, G. Ru, C. Maurella, M. Caramelli: Istituto Zooprofilattico del Piemonte, CEA, Turin, Italy; M. Biagetti: Istituto Zooprofilattico dell'Umbria, Perugia, Italy; V. Di Marco: Istituto Zooprofilattico della Sicilia, Barcellona, Italy; R. Lorenzetti: Istituto Zooprofilattico del Lazio, Rome, Italy; M. Di Ventura: Istituto Zooprofilattico dell'Abruzzo, Teramo, Italy. E-mail: pierluigi.acutis@izsto.it
SP englisch
PO Italien