Laboratory for Conservation and Utilization of Bioresource, Yunnan University, Kunming, China.
Genome. 2010 Feb;53(2):138-45. doi: 10.1139/g09-087.
Polymorphisms in four regions of the bovine prion protein gene (PRNP) confer susceptibility to bovine spongiform encephalopathy (BSE). These polymorphisms include a 23-bp insertion/deletion (indel) in the promoter region, a 12-bp indel in intron 1, an octapeptide repeat or 24-bp indel in the open reading frame, and a single nucleotide polymorphism (SNP) in the coding region. In this study, we investigated the frequency distributions of genotypes, alleles, and haplotypes at these indel sites in 349 native Chinese cattle and sequence variants in 50 samples. Our results showed that cattle in southern China have low frequencies of the 12-bp deletion allele and the 23-bp deletion / 12-bp deletion haplotype, which have been suggested to be relevant to BSE susceptibility. Interestingly, a significant difference was observed between BSE-affected cattle and healthy Chinese cattle in the 12-bp indel polymorphism. A total of 14 SNPs were discovered in the coding region of PRNP in Chinese cattle. Three of these SNPs were associated with amino acid changes (K3T, P54S, and S154N). The E211K substitution that was recently reported in the US atypical BSE case was not detected in this study.
牛朊病毒蛋白基因（PRNP）的四个区域的多态性赋予了牛海绵状脑病（BSE）易感性。这些多态性包括启动子区域的 23 个碱基对插入/缺失（indel）、内含子 1 中的 12 个碱基对 indel、开放阅读框中的八肽重复或 24 个碱基对 indel 以及编码区域中的单核苷酸多态性（SNP）。在这项研究中，我们调查了 349 头中国本地牛在这些 indel 位点的基因型、等位基因和单倍型的频率分布，以及 50 个样本中的序列变异。结果表明，中国南方的牛具有较低的 12 个碱基对缺失等位基因和 23 个碱基对缺失/12 个碱基对缺失单倍型频率，这与 BSE 易感性有关。有趣的是，在 12 个碱基对 indel 多态性方面，BSE 感染牛与健康中国牛之间存在显著差异。在中国牛的 PRNP 编码区共发现了 14 个 SNP，其中 3 个与氨基酸变化有关（K3T、P54S 和 S154N）。本研究未检测到美国非典型 BSE 病例中最近报道的 E211K 取代。
