Faculty of Veterinary Medicine, Department of Biochemistry, University of Istanbul, Istanbul, Turkey.
J Anim Breed Genet. 2009 Dec;126(6):463-7. doi: 10.1111/j.1439-0388.2009.00821.x.
Bovine spongiform encephalopathy (BSE) is a fatal disease caused by miss folded prion protein. Studies in the cattle, comparing genetic data from BSE diseased and healthy animals have shown that indel polymorphisms in the promoter and intron 1 of PRNP gene were associated with disease susceptibility. Several studies were conducted to find out allele and genotypic frequencies of indel polymorphisms in promoter and intron 1 of the cattle PRNP gene. Unlike domestic cattle and bison, no indel polymorphisms of the PRNP promoter and intron 1 were examined in any population of the water buffalo (Bubalus bubalis). Aim of this study was to analyse frequencies of allele, genotype, and haplotype of the indel polymorphisms (23 bp indel in promoter and 12 bp indel in intron 1) in prion protein coding gene (PRNP) of water buffalo. Therefore a PCR based procedure, previously used in cattle to detect indel polymorphisms of PRNP promoter and intron 1 locus, was applied to 106 Anatolian water buffalo DNAs. Our results have revealed high frequency of in variants and in23/in12 haplotype for PRNP promoter and intron 1 indel polymorphisms in water buffalo. The results of the study have demonstrated that frequencies of allele, genotype, and haplotype of the indel polymorphisms in PRNP gene of the Anatolian water buffalo are significantly different those from cattle and bison PRNP indel polymorphisms.
牛海绵状脑病（BSE）是一种由错误折叠的朊病毒蛋白引起的致命疾病。在牛中进行的研究比较了 BSE 患病和健康动物的遗传数据，表明 PRNP 基因启动子和内含子 1 中的插入/缺失多态性与疾病易感性相关。已经进行了几项研究以确定牛 PRNP 基因启动子和内含子 1 中插入/缺失多态性的等位基因和基因型频率。与家牛和野牛不同，在任何水牛（Bubalus bubalis）群体中都没有检查 PRNP 启动子和内含子 1 的插入/缺失多态性。本研究的目的是分析水牛朊病毒蛋白编码基因（PRNP）中插入/缺失多态性（启动子中的 23bp 插入/缺失和内含子 1 中的 12bp 插入/缺失）的等位基因、基因型和单倍型频率。因此，先前用于检测 PRNP 启动子和内含子 1 位点插入/缺失多态性的基于 PCR 的程序被应用于 106 个安纳托利亚水牛 DNA。我们的结果显示，PRNP 启动子和内含子 1 插入/缺失多态性的 in 变体和 in23/in12 单倍型在水牛中出现高频率。该研究的结果表明，安纳托利亚水牛 PRNP 基因插入/缺失多态性的等位基因、基因型和单倍型频率与牛和野牛 PRNP 插入/缺失多态性显著不同。
