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veterinary
anatomy
nutrition
farriery
2019
Expert Opinion

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

Authors: Bugno-Poniewierska Monika, Stefaniuk-Szmukier Monika, -Kajtoch Agata Piestrzyńska, Fornal Agnieszka, Piórkowska Katarzyna, Ropka-Molik Katarzyna

Journal: Veterinary journal (London, England : 1997)

Summary

# Genetic Screening in Polish Arabian Horses: Identifying Carriers of Three Inherited Disorders Intensive selective breeding within Arabian horse populations has elevated the risk of inbreeding depression and genetic disease; given Poland's significant influence on global Arabian bloodlines, researchers investigated the prevalence of three serious autosomal recessive conditions—cerebellar abiotrophy (CA), severe combined immunodeficiency (SCID) and lavender foal syndrome (LFS)—across 808 elite breeding animals using Sanger sequencing and allelic discrimination methods. The good news: no carriers of LFS were identified in the screened population. However, three heterozygous SCID carriers were detected (allele frequency q = 0.00185), marking the first documented cases in Poland, whilst cerebellar abiotrophy carriers showed a higher frequency at q = 0.04029. These findings underscore the practical value of DNA-based screening programmes in supporting informed breeding decisions and reducing the transmission of these inherited conditions, which cause significant economic losses and animal welfare concerns in Arabian breeding enterprises.

Read the full abstract on PubMed

Practical Takeaways

  • Polish Arabian breeders should implement SCID carrier screening before mating, as three carriers were identified; testing can prevent affected foals from being born
  • Cerebellar abiotrophy genetic variants are present in the Polish Arabian population at meaningful frequencies; selective breeding away from CA-affected genotypes is warranted
  • Genetic screening of breeding stock is a cost-effective tool to monitor and reduce genetic disease prevalence in Arabian horses and prevent inbreeding depression

Key Findings

  • No cases of lavender foal syndrome detected in the 808 Polish Arabian horses screened
  • Three heterozygous carriers of SCID identified in the population with allele frequency q = 0.00185, representing the first report of SCID carriers in Poland
  • Cerebellar abiotrophy minor allele frequency was q = 0.04029, indicating presence of CA genetic variants in the population
  • Genetic screening of elite breeding stock identified significant genetic disease variants that could guide selective breeding decisions

Conditions Studied

cerebellar abiotrophy (ca)severe combined immunodeficiency (scid)lavender foal syndrome (lfs)