Variation of thePrP gene was examined in healthy and BSE-affected Slovak cattle. According to previous studies, the 23-bp indel polymorphism is supposed to be associated with higher susceptibility to BSE. We investigated 301 samples from healthy cattle of various Slovak breeds and 24 samples obtained from tissues of BSE-affected cattle in Slovakia. We examined thePrP gene for the 23-bp indel polymorphism in the putative promoter region, 12-bp indel polymorphism in the first intron of thePrP gene, variations in number of octapeptide repeat units, and presence of the silent AAC>AAT transition in codon 192 within the protein-coding region of thePrP gene. Altogether we found 23 different genotypes in the group of healthy cattle and only 6 genotypes in the group of BSE-affected cattle. Comparison of homozygotes for the 23-bp insertion and heterozygotes showed significant differences (P < 0.05) in genotype distribution between the examined groups. Thereby the homozygous insertion genotype at the 23-bp indel polymorphism site in the promoter region of the prion protein gene seems to have a protective effect against BSE.

中文翻译：

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健康和受 BSE 影响的斯洛伐克牛的朊病毒蛋白基因多态性。

在健康和受 BSE 影响的斯洛伐克牛中检查了PrP基因的变异。根据之前的研究，23-bp indel 多态性被认为与对 BSE 的更高易感性有关。我们调查了来自不同斯洛伐克品种健康牛的 301 个样本和从斯洛伐克受 BSE 影响的牛的组织中获得的 24 个样本。我们检查了PrP基因在推定启动子区域中的 23 bp indel 多态性、PrP基因第一个内含子中的 12 bp indel 多态性、八肽重复单元数量的变化以及沉默 AAC>AAT 转换的存在。PrP蛋白质编码区内的密码子 192基因。我们总共在健康牛组中发现了 23 种不同的基因型，而在受 BSE 影响的牛组中仅发现了 6 种基因型。23 bp 插入的纯合子和杂合子的比较显示检查组之间基因型分布的显着差异（P < 0.05）。因此，朊病毒蛋白基因启动子区 23 bp indel 多态性位点的纯合插入基因型似乎对 BSE 具有保护作用。