Genetic screening for cerebellar abiotrophy, severe combined immunodeficiency and lavender foal syndrome in Arabian horses in Poland

Monika Bugno-Poniewierska; Monika Stefaniuk-Szmukier; Agata Piestrzyńska -Kajtoch; Agnieszka Fornal; Katarzyna Piórkowska; Katarzyna Ropka-Molik

doi:10.1016/j.tvjl.2019.04.012

Genetic screening for cerebellar abiotrophy, severe combined immunodeficiency and lavender foal syndrome in Arabian horses in Poland

Vet J. 2019 Jun:248:71-73. doi: 10.1016/j.tvjl.2019.04.012. Epub 2019 Apr 27.

Authors

Monika Bugno-Poniewierska¹, Monika Stefaniuk-Szmukier², Agata Piestrzyńska -Kajtoch³, Agnieszka Fornal³, Katarzyna Piórkowska³, Katarzyna Ropka-Molik³

Affiliations

¹ Department of Animal Reproduction, University of Agriculture, al. Mickiewicza 24/28, 30-059 Kraków, Poland.
² Department of Horse Breeding, University of Agriculture, al. Mickiewicza 24/28, 30-059 Kraków, Poland. Electronic address: mstefaniuk-szmukier@ar.krakow.pl.
³ Department of Animal Genomics and Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland.

PMID: 31113566
DOI: 10.1016/j.tvjl.2019.04.012

Abstract

The highly selective breeding of Arabian horses results in inbreeding depression and genetic disorders, thereby causing significant economic loss. The Polish population of Arabians has a great impact on many breeding programmes. The aim of the current study was to monitor genetic variants involved in the most common genetic disorders of this breed. A total of 808 elite Arabian horses were screened for cerebellar abiotrophy (CA), severe combined immunodeficiency (SCID) and lavender foal syndrome (LFS) genetic disorders by Sanger sequencing and allelic discrimination methods. The investigated population was clear of LFS. The unfavourable SCID allele was detected in three heterozygous horses (q = 0.00185). Regarding CA, the minor allele frequency was q = 0.04029. This is the first report of SCID carriers in Poland. This investigation demonstrates the value of genetic testing to support breeding decisions and to facilitate genetic disease monitoring.

Keywords: Arabian horses; Cerebellar abiotrophy; Genetic testing; Lavender foal syndrome; Severe combined immunodeficiency.

MeSH terms

Animals
Cerebellar Diseases / genetics
Cerebellar Diseases / veterinary*
Female
Genetic Predisposition to Disease
Genetic Testing / veterinary*
Horse Diseases / genetics*
Horse Diseases / immunology
Horses
Leber Congenital Amaurosis / genetics
Leber Congenital Amaurosis / veterinary*
Male
Pedigree
Poland
Severe Combined Immunodeficiency / genetics
Severe Combined Immunodeficiency / veterinary*
Syndrome