title: Prion protein gene polymorphisms in healthy and scrapie-affected Spanish sheep.
abstract: The Rasa Aragonesa sheep is the second most important Spanish breed after the Merino breed. Reported here is the prion protein (PrP) haplotype frequency distribution for scrapie-related codons (136, 154 and 171) and a sequencing study of the complete PrP gene open reading frame for this breed and six other closely related breeds. The study includes four scrapie-affected sheep flocks belonging to Rasa Aragonesa and Rasa Navarra breeds. Thirty-eight scrapie-affected sheep, 502 healthy sheep from scrapie-affected flocks and 905 sheep from a breed survey were genotyped. The most frequent PrP haplotype in both scrapie and healthy flocks was ARQ, which was found at significantly higher frequency in scrapie-affected sheep. The susceptibility-associated VRQ haplotype was found at low frequencies in six out of eight breeds, but was not present in the 38 scrapie-affected sheep. The resistance-associated ARR haplotype was found in all breeds except one (Ojinegra) at frequencies >or=14 %. Fourteen amino acid polymorphisms were detected in these Spanish sheep, including the known amino acid substitutions at codons 112, 136, 141, 143, 154, 171 and 176, and new polymorphisms at codons 101 (Q-->R), 151 (R-->G), 151 (R-->H), 172 (Y-->D) and 175 (Q-->E). Most of the novel polymorphic codons show frequencies lower than 5 %.
authors.affiliation: National Reference Centre for Transmissible Spongiform Encephalopathies, Animal Pathology Department, Veterinary Faculty, C/Miguel Servet 177, 50013 Zaragoza, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Acín
authors.affiliation: Biochemical Genetics and Blood Groups Laboratory, University of Zaragoza, C/Miguel Servet 177, 50013 Zaragoza, Spain.|National Reference Centre for Transmissible Spongiform Encephalopathies, Animal Pathology Department, Veterinary Faculty, C/Miguel Servet 177, 50013 Zaragoza, Spain.
authors.forename: Inmaculada
authors.initials: I
authors.lastname: Martín-Burriel
authors.affiliation: Institute for Animal Health, Neuropathogenesis Unit, West Mains Road, Edinburgh EH9 3JF, UK.
authors.forename: Wilfred
authors.initials: W
authors.lastname: Goldmann
authors.affiliation: Biochemical Genetics and Blood Groups Laboratory, University of Zaragoza, C/Miguel Servet 177, 50013 Zaragoza, Spain.
authors.forename: Jaber
authors.initials: J
authors.lastname: Lyahyai
authors.affiliation: National Reference Centre for Transmissible Spongiform Encephalopathies, Animal Pathology Department, Veterinary Faculty, C/Miguel Servet 177, 50013 Zaragoza, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Monzón
authors.affiliation: National Reference Centre for Transmissible Spongiform Encephalopathies, Animal Pathology Department, Veterinary Faculty, C/Miguel Servet 177, 50013 Zaragoza, Spain.
authors.forename: Rosa
authors.initials: R
authors.lastname: Bolea
authors.affiliation: Institute for Animal Health, Neuropathogenesis Unit, West Mains Road, Edinburgh EH9 3JF, UK.
authors.forename: Allister
authors.initials: A
authors.lastname: Smith
authors.affiliation: Biochemical Genetics and Blood Groups Laboratory, University of Zaragoza, C/Miguel Servet 177, 50013 Zaragoza, Spain.
authors.forename: Clementina
authors.initials: C
authors.lastname: Rodellar
authors.affiliation: National Reference Centre for Transmissible Spongiform Encephalopathies, Animal Pathology Department, Veterinary Faculty, C/Miguel Servet 177, 50013 Zaragoza, Spain.
authors.forename: Juan José
authors.initials: JJ
authors.lastname: Badiola
authors.affiliation: Biochemical Genetics and Blood Groups Laboratory, University of Zaragoza, C/Miguel Servet 177, 50013 Zaragoza, Spain.
authors.forename: Pilar
authors.initials: P
authors.lastname: Zaragoza
mesh_terms: D000818:Animals; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D017931:DNA Primers; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011328:Prions / Q000235:genetics*; D012016:Reference Values; D012756:Sheep; D012757:Sheep Diseases / Q000821:virology*; D013030:Spain
chemical_list: D003062:Codon; D017931:DNA Primers; D011328:Prions