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

Monika Bugno-Poniewierska , Monika Stefaniuk-Szmukier , Agata Piestrzynska-Kajtoch , Agnieszka Fornal , Katarzyna Piórkowska , Katarzyna Ropka-Molik


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.
Author Monika Bugno-Poniewierska (FoAS / IoVS)
Monika Bugno-Poniewierska,,
- Institute of Veterinary Sciences
, Monika Stefaniuk-Szmukier (FoAS / DoHB)
Monika Stefaniuk-Szmukier,,
- Department of Horse Breeding
, Agata Piestrzynska-Kajtoch - National Research Institute of Animal Production
Agata Piestrzynska-Kajtoch,,
, Agnieszka Fornal - National Research Institute of Animal Production
Agnieszka Fornal,,
, Katarzyna Piórkowska - National Research Institute of Animal Production
Katarzyna Piórkowska,,
, Katarzyna Ropka-Molik - National Research Institute of Animal Production
Katarzyna Ropka-Molik,,
Journal seriesVeterinary Journal, ISSN 1090-0233, e-ISSN 1532-2971, (N/A 140 pkt)
Issue year2019
Publication size in sheets0.3
Keywords in EnglishArabian horses, Cerebellar abiotrophy, Genetic testing, Lavender foal syndrome, Severe combined immunodeficiency
ASJC Classification3400 General Veterinary; 1103 Animal Science and Zoology
Languageen angielski
Score (nominal)140
Score sourcejournalList
Publication indicators WoS Citations = 3; Scopus SNIP (Source Normalised Impact per Paper): 2016 = 1.138; WoS Impact Factor: 2019 = 2.115 (2) - 2019=2.268 (5)
Citation count*
Additional fields
FinansowanieThe study was financed by the National Research and Development Center (Poland) BIOSTRATEG2/297267/14/NCBR/2016.
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* presented citation count is obtained through Internet information analysis and it is close to the number calculated by the Publish or Perish system.
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