e-journal Sanita Pubblica Veterinaria - Numero 102/2017,

(1)

Scrapie is a transmissible spongiform encephalopathy of sheep and goats, characterized by the deposition, in the central nervous system, of an abnormal isoform of a host-encoded cellular prion protein (PrP). In sheep, some polymorphisms of PRNP gene have been associated to classical scrapie resistance/susceptibility. In goats,

more than 50 putative polymorphisms were described. The aim of this work was the evaluation of the

frequencies of three of the main polymorphisms of PRNP gene, with particular attention to codon Q222K, associated to Scrapie resistance, in 5 Italian populations and in crossbred goats.

ANALYSIS BY BIOEDIT SOFTWARE

By Istituto Zooprofilattico Sperimentale dell’Umbria e delle Marche

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Stampato a cura dell'Unità Operativa di Supporto Biblioteca, Informazione, Editoria (2013).

C. Sebastiani1, M. Torricelli1, M. Ciullo1, G. Vaccari2, E. Lasagna3, F. M. Sarti3, S. Ceccobelli3, N. D’Avino1, M. Paniccià1 , M. Biagetti1

1 _{Istituto Zooprofilattico Sperimentale dell’Umbria e delle Marche – Perugia, Italy}

2 _{Istituto Superiore di Sanità - Dipartimento di Sanità Pubblica Veterinaria e Sicurezza Alimentare – Roma, Italy} 3_{Dipartimento di Scienze Agrarie, Alimentari e Ambientali, Università degli Studi di Perugia – Perugia, Italy}

This project was funded by the Italian Ministry of Health, RC IZSUM 04/2015

36

th

International Society for Animal Genetics Conference

Dublin, 16

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July 2017

ALLELIC AND GENOTYPIC FREQUENCIES OF PRNP GENE POLYMORPHISMS

IN SOME ITALIAN GOAT POPULATIONS

INTRODUCTION

DISCUSSION AND CONCLUSION

MATERIALS AND METHODS

from whole blood

Sampling from different Italian goat populations (125 animals)

RESULTS

No selection plan for scrapie resistance in goats have been actually developed and the occurence of the disease is still treated with a stamping out approach.

Knowledge of the distribution of the allelic variants of PRNP in goats has become very important.

Protective PRNP alleles showed variable frequencies in the italian goat populations considered in this study. These

data could be useful for planning future genetic selection programmes to control and try to eradicate scrapie in goats. Amplification

of the whole CDS of PRNP gene and

bidirectional sequencing

As regards the distribution of the allelic frequencies and the genotypic frequencies in the Italian goat populations analyzed, the percentages were calculated.

CODON wild-type allele % frequency mutant allele % frequency 154 R 97.6 H 2.4 211 R 96.8 Q 3.2 222 Q 92.8 K 7.2 CODON % wild-type homozygous % mutant homozygous % heterozygous 154 95.2 (R/R) / 4.8 (R/H) 211 93.6 (R/R) / 6.4 (R/Q) 222 87.2 (Q/Q) 1.6 (K/K) 11.2 (Q/K)

R: arginine; H: histidine; Q: glutamine; K: lysine

Thanks to Victor Habbick / FreeDigitalPhotos.net for the image Thanks to http://www.agraria.org for the image

Capestrina

Thanks to http://www.agraria.org for the image

Bianca monticellana Facciuta della Valnerina

Thanks to http://www.agraria.org for the image

Ciociara grigia

Thanks to http://www.assonapa.it for the image

Fulva del Lazio

Thanks to http://www.goatit.eu for the image

By Istituto Zooprofilattico Sperimentale dell’umbria e delle Marche

Crossbred ABI PRISM® 3500 Genetic Analyzer B y Is ti tu to Z o o p ro fi lat ti co Sp er imenta le d el l’Umb ri a e d el le M ar ch e SNP BREED Grigia ciociara (n=24) Bianca monticellana (n=24) Capestrina (n=20) Fulva del Lazio (n=22) Facciuta della Valnerina (n=17) Crossbred (n=18) R154H 4.2% 4.2% 20% 0,0% 0,0% 1.0% R211Q 0,0% 12.5% 0,0% 0,0% 0,0% 2.1% Q222K 16.7% 8.3% 30,0% 22.7% 17.6% 1.4% Allelic frequencies

estimated for each breed

ALLELIC FREQUENCIES _{GENOTYPIC FREQUENCIES}

By Istituto Zooprofilattico Sperimentale dell’umbria e delle Marche

B y Is ti tu to Z o o p ro fi lat ti co Sp er imenta le d el l’u mb ri a e d el le M ar ch e