United Graduate School of Agriculture, Kagoshima University, Kagoshima, Japan.
Anim Sci J. 2009 Oct;80(5):520-7. doi: 10.1111/j.1740-0929.2009.00669.x.
Polymorphisms in the prion protein gene (PRNP) are known to be associated with transmissible spongiform encephalopathies in human, sheep and goats. There is tentative association between PRNP promoter polymorphism and bovine spongiform encephalopathy (BSE) susceptibility in cattle. In this study, we genotyped for six bovine PRNP polymorphic sites including a 23-bp indel in the promoter, a 12-bp indel in the intron 1, two nonsynonymous single nucleotide polymorphisms (SNPs), octapeptide repeats in the coding region and a 14-bp indel in the 3'-untranslated region in 178 animals representing Japanese Brown, Kuchinoshima feral, Mishima, Japanese Shorthorn and Holstein. In 64 Japanese Brown cattle, three indel sites were polymorphic. All of the six sites were monomorphic in Kuchinoshima. The 23-bp and 12-bp indel sites were polymorphic in Mishima cattle. The 23-bp and 14-bp indel sites were polymorphic in Japanese Shorthorn cattle. Both SNP sites were monomorphic in all cattle examined in this study. At the 23-bp indel site, the genotype frequencies of Japanese Brown and Holstein breeds were similar to that of BSE affected cattle. We estimated 12 different haplotypes from these genotypic data. A '23-12-K6S14+' haplotype was the major haplotype in all populations, whose frequencies ranged from 0.50 to 1.00.
朊病毒蛋白基因（PRNP）的多态性已知与人类、绵羊和山羊的传染性海绵状脑病有关。PRNP 启动子多态性与牛海绵状脑病（BSE）易感性之间存在初步关联。在这项研究中，我们对包括启动子 23 个碱基对缺失、1 号内含子 12 个碱基对缺失、两个非同义单核苷酸多态性（SNP）、编码区八肽重复和 3'-非翻译区 14 个碱基对缺失在内的六个牛 PRNP 多态性位点进行了基因分型，这些位点代表了日本褐牛、奄美牛、见岛牛、日本短角牛和荷斯坦牛的 178 个个体。在 64 头日本褐牛中，有三个缺失位点多态性。6 个位点在奄美牛中均为单态性。23 个碱基对和 12 个碱基对缺失位点在见岛牛中多态性。23 个碱基对和 14 个碱基对缺失位点在日本短角牛中多态性。所有检查的牛在这两个 SNP 位点均为单态性。在 23 个碱基对缺失位点，日本褐牛和荷斯坦牛的基因型频率与 BSE 受感染牛相似。我们从这些基因型数据中估计了 12 种不同的单倍型。在所有群体中，'23-12-K6S14+'单倍型是主要单倍型，其频率范围为 0.50 至 1.00。
