title: Polymorphisms of intron 1 and the promoter region at the PRNP gene in BSE-free Caracu cattle.
abstract: The infectious prion protein PrP(Sc) is encoded by the PRNP gene. In cattle, insertion/deletion (indel) polymorphisms are among the changes that occur in this gene, the most studied of which are within intron 1 (12 bp) and the promoter region (23 bp). Sequence variants in this gene may affect the formation of PrP(Sc). In the present study, nucleotide variability in specific regions of the PRNP gene in Caracu cattle free of bovine spongiform encephalopathy was investigated to determine the genotypic profile of each animal within the group. Caracu cattle exhibited high allele frequency for the two polymorphic regions studied, 12ins (70 %) and 23ins (72.5 %), genotype frequencies of 50 % for 12ins/ins and 50 % for 23ins/del, and a high frequency of the 12ins-23ins haplotype (57.5 %). Of the 40 animals sampled, 15 had the 12ins-23ins/12ins-23ins diplotype.
authors.affiliation: Universidade Federal de Mato Grosso do Sul, Programa de Pós-Graduação Mestrado em Ciência Animal, Campo Grande, MS, Brazil.
authors.forename: Cleber Eduardo
authors.initials: CE
authors.lastname: Galvão
authors.forename: Grácia Maria Soares
authors.initials: GM
authors.lastname: Rosinha
authors.forename: Cristiane Camargo
authors.initials: CC
authors.lastname: Sanches
authors.forename: Carina
authors.initials: C
authors.lastname: Elisei
authors.forename: Flábio Ribeiro
authors.initials: FR
authors.lastname: Araújo
authors.forename: Gelson Luís Dias
authors.initials: GL
authors.lastname: Feijó
authors.forename: Roberto Augusto
authors.initials: RA
authors.lastname: de Almeida Torres
authors.forename: Cleber Oliveira
authors.initials: CO
authors.lastname: Soares
mesh_terms: D000818:Animals; D001483:Base Sequence; D002417:Cattle; D033481:Chromosomes, Mammalian / Q000235:genetics; D004252:DNA Mutational Analysis; D016643:Encephalopathy, Bovine Spongiform / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006579:Heterozygote; D054643:INDEL Mutation; D007438:Introns; D015810:Linkage Disequilibrium; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D011328:Prions / Q000235:genetics* / Q000472:pathogenicity; D011401:Promoter Regions, Genetic
chemical_list: D011328:Prions