Sander Petra, Hamann Henning, Pfeiffer Ina, Wemheuer Wilhelm, Brenig Bertram, Groschup Martin H, Ziegler Ute, Distl Ottmar, Leeb Tosso
Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, Bünteweg 17 p, 30559 Hannover, Germany.
Neurogenetics. 2004 Feb;5(1):19-25. doi: 10.1007/s10048-003-0171-y. Epub 2004 Jan 15.
Different alleles of the prion protein gene (PRNP) of human and sheep are known to be associated with varying susceptibilities to transmissible spongiform encephalopathies. However, no polymorphisms in the bovine PRNP gene with an effect on susceptibility to prion diseases have been identified to date. In this study we investigated such polymorphisms in German cattle; 48 healthy animals from six different German cattle breeds and 43 cattle with bovine spongiform encephalopathy (BSE) were analyzed. In contrast to previous studies, all three exons as well as the promoter region of the PRNP gene were investigated. Sequence variants in the bovine PRNP gene could have an impact on the amino acid sequence or the expression level of the prion protein and thus on susceptibility to BSE. We identified a total of 60 polymorphisms in the PRNP gene of German cattle. Of these 60 polymorphisms, 36 were newly identified, whereas 24 of these polymorphisms had been described previously. We did not detect any novel polymorphisms affecting the amino acid sequence of the prion protein. However, we identified a 23-bp insertion/deletion polymorphism in the putative PRNP promoter region that shows a significant association with BSE susceptibility in our animals.
已知人类和绵羊的朊病毒蛋白基因（PRNP）的不同等位基因与传染性海绵状脑病的易感性不同有关。然而，迄今为止尚未在牛PRNP基因中鉴定出对朊病毒疾病易感性有影响的多态性。在本研究中，我们调查了德国牛中的此类多态性；分析了来自六个不同德国牛品种的48头健康动物和43头患有牛海绵状脑病（BSE）的牛。与先前的研究不同，本研究调查了PRNP基因的所有三个外显子以及启动子区域。牛PRNP基因中的序列变异可能会影响朊病毒蛋白的氨基酸序列或表达水平，从而影响对BSE的易感性。我们在德国牛的PRNP基因中总共鉴定出60个多态性。在这60个多态性中，有36个是新鉴定出的，而其中24个多态性先前已有描述。我们未检测到任何影响朊病毒蛋白氨基酸序列的新多态性。然而，我们在假定的PRNP启动子区域鉴定出一个23 bp的插入/缺失多态性，该多态性在我们的动物中与BSE易感性显著相关。
