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Biochem Genet ; 50(9-10): 657-69, 2012 Oct.
Article in English | MEDLINE | ID: mdl-22580793

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.


Subject(s)
Encephalopathy, Bovine Spongiform/genetics , INDEL Mutation , Introns , Polymorphism, Genetic , Prions/genetics , Promoter Regions, Genetic , Animals , Base Sequence , Cattle , Chromosomes, Mammalian/genetics , DNA Mutational Analysis , Gene Frequency , Genetic Predisposition to Disease , Haplotypes , Heterozygote , Linkage Disequilibrium , Molecular Sequence Data , Prions/pathogenicity
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