Meydan Hasan, Pehlivan Erkan, Özkan Mustafa Muhip, Yildiz Mehmet Ali, Goldmann Wilfred
Department of Agricultural Biotechnology, Akdeniz University, 07058, Antalya, Turkey.
J Genet. 2017 Jun;96(2):299-305. doi: 10.1007/s12041-017-0763-1.
Susceptibility to 'scrapie' disease in goats is influenced by polymorphisms of the prion protein (PRNP) gene. The aim of this study was to identify PRNP gene polymorphisms in a total of 356 scrapie disease-free goats from 10 Turkish native breeds. Eighteen single-nucleotide polymorphisms were detected in the caprine PRNP open-reading frame. Ten previously described amino acid substitutions (I142M, H143R, N146S, N146D, R151H, R154H, P168Q, R211Q, Q222K and P240S) and two novel dimorphisms (G134E and Q163P) were identified. The strongest association between caprine PRNP and relative resistance to scrapie disease has been reported previously for polymorphisms at codons 146 (S/D) and 222 (K). In the present study, these three PrP variants were relatively rare with 6.3%. This is the first report on PRNP gene variation in Turkish native goat breeds and our knowledge of these polymorphisms will assist goat breeding programmes to reduce the risk of scrapie.
山羊对“痒病”的易感性受朊病毒蛋白（PRNP）基因多态性的影响。本研究的目的是鉴定来自10个土耳其本土品种的总共356只无痒病山羊的PRNP基因多态性。在山羊PRNP开放阅读框中检测到18个单核苷酸多态性。鉴定出10个先前描述的氨基酸取代（I142M、H143R、N146S、N146D、R151H、R154H、P168Q、R211Q、Q222K和P240S）以及两个新的双态性（G134E和Q163P）。先前报道，密码子146（S/D）和222（K）处的多态性与山羊PRNP和对痒病的相对抗性之间存在最强关联。在本研究中，这三种PrP变体相对罕见，占6.3%。这是关于土耳其本土山羊品种PRNP基因变异的首次报道，我们对这些多态性的了解将有助于山羊育种计划降低痒病风险。
