Kim Yong-Chan, Jeong Min-Ju, Jeong Byung-Hoon
a Korea Zoonosis Research Institute , Chonbuk National University , Iksan , Jeonbuk , Republic of Korea.
b Department of Bioactive Material Sciences , Chonbuk National University , Jeonju , Jeonbuk , Republic of Korea.
Prion. 2018;12(3-4):197-203. doi: 10.1080/19336896.2018.1471922. Epub 2018 Jul 14.
Abnormal structural changes of the prion protein (PrP) are the cause of prion disease in a wide range of mammals. However, spontaneous infected cases have not been reported in chicken. Genetic variations of the prion protein gene (PRNP) may impact susceptibility to prion disease but have not been investigated thus far. Because an investigation of the chicken PRNP can improve the understanding of characteristics related to resistance to prion disease, research on the chicken PRNP is highly desirable. In this study, we investigated the genetic characteristics of the chicken PRNP gene. For this, we performed direct sequencing in 106 Dekalb White chickens and analyzed the genotype and allele frequencies of chicken PRNP gene. We found two insertion and deletion polymorphisms in the chicken PRNP: c.163_180delAACCCAGGGTACCCCCAT and c.268_269insC. The former is a U2 hexapeptide deletion polymorphism. Of the 106 samples, 13 (12.26%) were insertion homozygotes, 89 (83.96%) were heterozygotes, and 4 (3.77%) were deletion homozygotes in c.163_180delAACCCAGGGTACCCCCAT. In the c.268_269insC polymorphism, 102 (96.23%) were deletion homozygotes, and 4 (3.77%) were heterozygotes. Insertion homozygotes of c.268_269insC were not detected. Two polymorphisms were in perfect linkage disequilibrium (LD) with a D' value of 1.0, and three haplotypes were identified. Furthermore, PROVEAN evaluates 163_180delAACCCAGGGTACCCCCAT as 'deleterious' with a score of - 13.173. Furthermore, single nucleotide polymorphisms (SNPs) in the open reading frame (ORF) of the PRNP gene were not found in the chicken. To the best of our knowledge, this was the first report on the genetic variations of the chicken PRNP gene.
朊病毒蛋白（PrP）的异常结构变化是多种哺乳动物朊病毒病的病因。然而，尚未有鸡发生自然感染病例的报道。朊病毒蛋白基因（PRNP）的遗传变异可能会影响对朊病毒病的易感性，但迄今为止尚未进行过研究。由于对鸡PRNP的研究可以增进对与朊病毒病抗性相关特征的理解，因此对鸡PRNP的研究非常必要。在本研究中，我们调查了鸡PRNP基因的遗传特征。为此，我们对106只迪卡白鸡进行了直接测序，并分析了鸡PRNP基因的基因型和等位基因频率。我们在鸡PRNP中发现了两个插入和缺失多态性：c.163_180delAACCCAGGGTACCCCCAT和c.268_269insC。前者是U2六肽缺失多态性。在106个样本中，13个（12.26%）是插入纯合子，89个（83.96%）是杂合子，4个（3.77%）是c.163_180delAACCCAGGGTACCCCCAT的缺失纯合子。在c.268_269insC多态性中，102个（96.23%）是缺失纯合子，4个（3.77%）是杂合子。未检测到c.268_269insC的插入纯合子。两个多态性处于完全连锁不平衡（LD）状态，D'值为1.0，并鉴定出三种单倍型。此外，PROVEAN将163_180delAACCCAGGGTACCCCCAT评估为“有害”，评分为-13.173。此外，在鸡中未发现PRNP基因开放阅读框（ORF）中的单核苷酸多态性（SNP）。据我们所知，这是关于鸡PRNP基因遗传变异的首次报道。
