Prion Protein Genotypes in Pakistani Goats

  • Babar, M.E. (University of Veterinary and Animal Sciences) ;
  • Nawaz, M. (University of Veterinary and Animal Sciences) ;
  • Nasim, A. (COMSTECH) ;
  • Abdullah, M. (University of Veterinary and Animal Sciences) ;
  • Imran, M. (University of Veterinary and Animal Sciences) ;
  • Jabeen, R. (University of Veterinary and Animal Sciences) ;
  • Chatha, S.A. (University of Veterinary and Animal Sciences) ;
  • Haq, A.U. (University of Veterinary and Animal Sciences) ;
  • Nawaz, A. (University of Veterinary and Animal Sciences) ;
  • Mustafa, H. (University of Veterinary and Animal Sciences) ;
  • Nadeem, A. (University of Veterinary and Animal Sciences)
  • Received : 2007.08.27
  • Accepted : 2008.02.27
  • Published : 2008.07.01


The PCR-amplified prion protein (PrP) gene was sequenced to determine the frequency of scrapie-associated as well as novel PrP genotypes in 72 healthy goats representing five breeds. A total of six genotypes were detected, resulting from the three reported 143 (H/R), 154 (R/H) and 240 (S/P) and the two novel 39 (S/R) and 185 (I/F) amino acid polymorphisms. Of the four silent mutations 42 (a$\rightarrow$g), 138 (c$\rightarrow$t), 231 (c$\rightarrow$a) and 237 (g$\rightarrow$c) detected in this study, 237 (g$\rightarrow$c) is novel. A genotype (SIP/RFP) harboring three amino acid polymorphisms 39 (S/R), 185 (I/F) and 240 (S/P) was found in few goats. Although both scrapie-associated genotypes with 143 (H/R) and 154 (R/H) polymorphisms and others with 39 (S/R), 185 (I/F) and 240 (S/P) polymorphisms were present in the studied Pakistani goats, their frequency was lower than that of the wild-type genotype SHRIS/SHRIS (34.7%). These results emphasize the need for further sequencing of the PrP gene in a large number of goats representing the five studied breeds, so that overall PrP variability can be assessed in these breeds in research addressing future concerns about scrapie.


  1. Goldmannn, W., T. Martin, J. Foster, S. Hughes, G. Smith, K. Hughes, M. Dawson and N. Hunter. 1996. Novel polymorphisms in the caprine PrP gene: a codon 142 mutation associated with scrapie incubation period. J. Gen. Virol. 77:2885-2891.
  2. Collinge, J. A. R. 2007. A general model of prion strains and their pathogenicity. Sci. 318:930-936.
  3. Baylis, M. and W. Goldmann. 2004. The genetics of scrapie in sheep and goats. Curr. Mol. Med. 4:385-396.
  4. Billinis, C., C. H. Panagiotidis, V. Psychas, S. Argyroudis, A. Nicolaou, S. Leontides, O. Papadopoulos and T. Sklaviadis. 2002. Prion protein gene polymorphisms in natural goat scrapie. J. Gen. Virol. 83:713-721.
  5. Acutis, P. L., A. Bossers, J. Priem, M. V. S. Riina, Peletto, M. Mazza, C. Casalone, G. Forloni, G. Ru and M. Caramelli. 2006. Identification of prion protein gene polymorphisms in goats from Italian scrapie outbreaks. J. Gen. Virol. 87:1029-1033.
  6. Agrimi, U., M. Conte, L. Morelli, M. A. Di Bari, G. Di Guardo, C. Ligios, G. Antonucci, G. M. Aufiero, N. Pozzato, F. Mutinelli, R. Nonno and G. Vaccari. 2003. Animal transmissible spongiform encephalopathies and genetics. Vet. Res. Commun. 27(Suppl. 1):31-38.
  7. Kurosaki, Y., N. Ishiguro, M. Horiuchi and M. Shinagawa. 2005. Polymorphisms of caprine PrP gene detected in Japan. J. Vet. Med. Sci. 67:321-323.
  8. Grimberg, J., S. Nawoschik, L. Belluscio, R. Mckee, A. Turk and A. Eiswenberg. 1989. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucl. Acids Res. 17(16):8390.
  9. Goldmannn, W., M. Perucchini, A. Smith and N. Hunter. 2004. Genetic variability of the PrP gene in a goat herd in the UK. Vet. Rec. 155:177-178.
  10. Govt of Pakistan, Economic survey of Pakistan, 2006.
  11. Vaccari, G., M. A. Di Bari, L. Morelli, R. Nonno, B. Chiappini, G. Antonucci, S. Marcon, E. Esposito, P. Fazzi, N. Palazzini, P. Troiano, A. Petrella, G. Di Guardo and U. Agrimi. 2006. Identification of an allelic variant of the goat PrP gene associated with resistance to scrapie. J. Gen. Virol. 87(Pt 5):1395-1402.
  12. Wopfner, F., G. Weidenho, R. Schneider, A. von Brunn, S. Gilch, T. F. Schwarz, T. Werner and H. M. Schatzl. 1999. Analysis of 27 mammalian and 9 avian PrPs reveals high conservation of flexible regions of the prion protein. J. Mol. Biol. 289:1163-1178.
  13. Prusiner, S. B. 2004. Prion biology and diseases. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
  14. Prusiner, S. B. 1998. Prions. Proc. Natl. Acad. Sci. USA. 95:13363-13383.
  15. Papasavva-Stylianou, P., M. Kleanthous, P. Toumazos, P. Mavrikiou and P. Loucaides. 2007. Novel polymorphisms at codons 146 and 151 in the prion protein gene of Cyprus goats, and their association with natural scrapie. Vet. J. 173(2):459-462.
  16. Goldmannn, W., A. Chong, J. Foster, J. Hope and N. Hunter. 1998. The shortest known prion protein gene allele occurs in goats, has only three octapeptide repeats and is non-pathogenic. J. Gen. Virol. 79:3173-3176.
  17. Hurtado, A., A. L. Garcia-Perez, B. de Heredia, J. Barandika, A. Sanz-Parra, E. Berriatua and R. A Juste. 2002. Genetic susceptibility to scrapie in a population of Latsa breed sheep in the Basque country, Spain. Small Rumin. Res. 45:255-259.
  18. Zhang, L., N. Li, B. Fan, M. Fang and W. Xu. 2004. PRNP polymorphisms in Chinese ovine, caprine and bovine breeds. Anim. Genet. 35:457-461.