Sheep & Goats

PRNP gene polymorphism in goats from Poland

---

Abstract

Scrapie is a fatal prion disease that belongs to the group of transmissible spongiform encephalopathies (TSEs). The disease affects sheep, goats and mouflons. There are two scrapie types: classical and atypical (NOR98). They differ in aetiology and genetics. To date (Nov 2025), four cases of goat scrapie have been reported in Poland. In goats, several PRNP codon variants (G32stop, G127S, I142M, H143R, N146S/D, R154H, R211Q, and Q222K) were associated with resistance to TSE, however, two codons seems to be the most promising - 146 and 222. Alleles 146S, 146D and 222K are thought to influence the scrapie resistance in goats. The aim of the study was to investigate the PRNP gene polymorphism in goats from Poland and calculate the frequency of alleles for codons 146 and 222 in studied population. Here we present the preliminary results. The samples (306) of four different goat breeds and crossbreds were collected in 16 different farms. DNA was isolated with Sherlock AX (A&A Biotechnology, Poland). The samples were genotyped using Real-time PCR genotyping method (Allelic Discrimination) with TaqMan MGB Assays (ThermoFisher Scientific, USA), on StepOnePlus Real-time PCR System. We also used sequencing method. All animals were examined using TaqMan MGB Assays for codons 142, 146, 211 and 222. The TaqMan MGB Assays for codons 146 and 222 were validated with reference samples shared by Barbara Chiappini (Istituto Superiore di Sanità , Rome, Italy) and used also in Goat PRNP Genotyping Proficiency tests organized by EURL TSE. The sequencing confirmed results revealed by TaqMan Genotyping. In studied population, allele S146 was present only in one Anglo-Nubian goat and we did not find any individual with D146 allele. Allele K222 was present in 10 heterozygous samples and Q/K genotype frequency was 3,3%. The frequency of M142 (allele potentially extend the incubation period) was also low. Allele Q in codon 211, which was connected to lower susceptibility by some Authors, was more frequent (6,7%). The frequencies of S146 and K222 alleles were lower than in research conducted in Italy and Greece, however we tested smaller group of animals. The sequencing revealed also other polymorphic sites - silent mutations P42P, S138S and missense mutations T110P, G127S, S240P. Next, we plan to increase the number of samples to refine allele-frequency estimates and evaluate the feasibility of selection. Concluding, in the tested goat population, the frequency of PRNP alleles considered to be associated with scrapie resistance was very low (S146, K222) and the D146 allele was not found. With such low allele frequencies, it would be extremely difficult to use these alleles for animal selection. The study was financed by Ministry of Agriculture and Rural Development - Multiannual Programme no. 03-18-22-09 and no. 03-18-09-09.

Keywords: 2026

How to Cite:

Piestrzynska-Kajtoch, A., Kmita, B., Sikora, J. & Kawęcka, A., (2026) “PRNP gene polymorphism in goats from Poland”, World Congress on Genetics Applied to Livestock Production Digital Archive 2026(1): 2286367. doi: https://doi.org/10.31274/wcgalp.23962

Rights: 1