1887

Abstract

In sheep, susceptibility to scrapie is mainly influenced by polymorphisms of the gene. In goats, there are to date few data related to scrapie susceptibility association with gene polymorphisms. In this study, we first investigated gene polymorphisms of the French Alpine and Saanen breeds. Based on gene open reading frame sequencing of artificial insemination bucks (=404), six encoding mutations were identified at codons 127, 142, 154, 211, 222 and 240. However, only seven haplotypes could be detected: four (GIHRQS, GIRQQS, GIRRKS and GIRRQP) derived from the wild-type allele (GIRRQS) by a single-codon mutation, and two (SIRRQP and GMRRQP) by a double-codon mutation. A case–control study was then implemented in a highly affected Alpine and Saanen breed herd (90 cases/164 controls). Mutations at codon 142 (I/M), 154 (R/H), 211 (R/Q) and 222 (Q/K) were found to induce a significant degree of protection towards natural scrapie infection. Compared with the baseline homozygote wild-type genotype IRRQ/IRRQ goats, the odds of scrapie cases in IRQQ/IRRQ and IRRK/IRRQ heterozygous animals were significantly lower [odds ratio (OR)=0.133, <0.0001; and OR=0.048, <0.0001, respectively]. The heterozygote MRRQ/IRRQ genotype was only protective (OR=0.243, =0.0186) in goats also PP homozygous at codon 240. However, mutated allele frequencies in French Alpine and Saanen breeds were low (0.5–18.5 %), which prevent us from assessing the influence of all the possible genotypes in natural exposure conditions.

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2009-03-01
2019-11-17
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