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首页> 外文期刊>Journal of genetics >Genetic variability at seven codons of the prion protein gene in nine Pakistani sheep breeds
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Genetic variability at seven codons of the prion protein gene in nine Pakistani sheep breeds

机译：九个巴基斯坦绵羊品种中ion病毒蛋白基因七个密码子的遗传变异

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摘要

Scrapie is a fatal neurodegenerative disease of sheep and goats, which is strongly believed to be caused by the ccumulation of improperly folded forms of host-encoded ellular prion protein (PrPc) in the central nervous system (CNS). The different genotypes of prion protein gene have beenshown to make animals variably susceptible to this disease.We determined the genotypes of 284 sheep from six native(Buchi, Kachi, Kajli, Lohi, Sipli and Thalli), two crossbred(Hissardale and Pak-Karakul) and one imported (Awassi)breeds of sheep in the Punjab province of Pakistan at sevencodons of the prion protein (PrP) gene, to assess the susceptibility/ resistance of these breeds to natural scrapie. These breeds were polymorphic at codons 112 (M,T), 154 (R,H),171 (Q,R,H) and 231 (nucleotide A or C), and monomorphicat codons 136 (A), 141 (L) and 241 (P). Six haplotypesand 18 genotypes were detected. M112 A136 L141 R154Q171 Ra231 P241, which is likely the ancestral haplotype ofthe PrP gene, was present in all breeds, and had high frequencies in the native breeds, ranging from 0.69 in Kajli to 0.95 in Kachi. Two rare haplotypes were detected,M112 R154H171 Rc231 and M112 H154 Q171 Rc231, each of which is theresult of two mutations (H171 or H154 in combination withRc231) on the ancestral haplotype background. The formerwas present in all nine breeds at rather high frequencies. TheM112A136R154R171Ra231 haplotype, that confers resistance tothe typical scrapie agent, was absent in the Buchi, Kachi andSipli breeds but was present in other local breeds at low frequencies. Although the V136 allele, associated with the highest susceptibility to scrapie, was not present in any of the breeds, the low frequency of the highly resistant R171 allele puts the native breeds of Punjab at a moderate risk of infection by typical scrapie agents.
机译：瘙痒病是绵羊和山羊的致命性神经退行性疾病，据信是由中枢神经系统（CNS）中宿主编码的ell蛋白蛋白（PrPc）折叠形式不当引起的。 ion病毒蛋白基因的不同基因型已显示出使动物易患此病的能力。我们确定了来自六种本地种（Buchi，Kachi，Kajli，Lohi，Sipli和Thalli），两种杂交（Hissardale和Pak-Karakul）的284只绵羊的基因型）和巴基斯坦旁遮普省的一只进口的（Awassi）绵羊品种，其the病毒蛋白（PrP）基因的密码子为7个，以评估这些品种对天然瘙痒病的敏感性/抗性。这些品种的密码子分别为112（M，T），154（R，H），171（Q，R，H）和231（核苷酸A或C），以及单态密码子136（A），141（L）和110。 241（P）。共检测到6个单倍型和18个基因型。 M112 A136 L141 R154Q171 Ra231 P241，可能是PrP基因的祖先单倍型，存在于所有品种中，并且在本地品种中具有很高的频率，范围从Kajli的0.69到Kachi的0.95。检测到两个罕见的单倍型，M112 R154H171 Rc231和M112 H154 Q171 Rc231，每个均在祖先单倍型背景上产生两个突变（H171或H154与Rc231组合）。前者以很高的频率出现在所有九个品种中。 Buchi，Kachi和Sipli品种中不存在对典型的瘙痒病菌具有抗性的M112A136R154R171Ra231单倍型，但在其他地方品种中出现频率较低。尽管在所有品种中均不存在与瘙痒病敏感性最高相关的V136等位基因，但高抗性R171等位基因的低频率使旁遮普邦的本地品种处于典型的瘙痒病媒介感染的中等风险中。

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