Genetic screening for cerebellar abiotrophy, severe combined immunodeficiency and lavender foal syndrome in Arabian horses in Poland.
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.
Copyright © 2019 Elsevier Ltd. All rights reserved.
Publication Date: 2019-04-27 PubMed ID: 31113566DOI: 10.1016/j.tvjl.2019.04.012Google Scholar: Lookup
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- Journal Article
Summary
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This study examined a variety of genetic disorders in Arabian horses in Poland. The research found that the population was clear of Lavender Foal Syndrome, but carriers for Severe Combined Immunodeficiency (SCID) and Cerebellar Abiotrophy (CA) were present.
Background of the Study
- The research was centered on Arabian horses in Poland due to their significance to many breeding programmes.
- The study aimed to examine the genetic variants involved in the most common genetic disorders of this breed, which include cerebellar abiotrophy (CA), severe combined immunodeficiency (SCID) and lavender foal syndrome (LFS).
- These genetic disorders are suspected to be the result of inbreeding depression and selective breeding habits.
- The economic fallout caused by these genetic disorders is also considerable, motivating the need for a systematic investigation.
Study Methodology
- A total of 808 elite Arabian horses were included in the screening process.
- The team used Sanger sequencing and allelic discrimination methods to screen for the three genetic disorders.
Results of the Study
- The population of Arabian horses investigated were found to be clear of lavender foal syndrome (LFS), indicating that none of the horses in the sample group carried the disorder.
- The unfavorable SCID allele was detected in three horses. These horses were heterozygous, which means that they had one copy of the defective gene and one copy of the normal gene, giving a minor allele frequency of 0.00185.
- In comparison, the minor allele frequency for cerebellar abiotrophy (CA) was found to be greater at 0.04029.
- This study marked the first time SCID carriers were reported in Poland.
Implications of the Study
- The investigation underscores the importance of genetic testing for Mediterranean horses, particularly those involved in breeding programs.
- By identifying and documenting the genetic disorders present in the population, breeders can make more informed decisions that benefit the health and vitality of the horse population.
- This can also assist in monitoring and managing the spread of these genetic diseases in the equine population.
Cite This Article
APA
Bugno-Poniewierska M, Stefaniuk-Szmukier M, -Kajtoch AP, Fornal A, Piórkowska K, Ropka-Molik K.
(2019).
Genetic screening for cerebellar abiotrophy, severe combined immunodeficiency and lavender foal syndrome in Arabian horses in Poland.
Vet J, 248, 71-73.
https://doi.org/10.1016/j.tvjl.2019.04.012 Publication
Researcher Affiliations
- Department of Animal Reproduction, University of Agriculture, al. Mickiewicza 24/28, 30-059 Kraków, Poland.
- Department of Horse Breeding, University of Agriculture, al. Mickiewicza 24/28, 30-059 Kraków, Poland. Electronic address: mstefaniuk-szmukier@ar.krakow.pl.
- Department of Animal Genomics and Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland.
- Department of Animal Genomics and Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland.
- Department of Animal Genomics and Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland.
- Department of Animal Genomics and Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland.
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
Citations
This article has been cited 3 times.- De Coster T, Zhao Y, Tšuiko O, Demyda-Peyrás S, Van Soom A, Vermeesch JR, Smits K. Genome-wide equine preimplantation genetic testing enabled by simultaneous haplotyping and copy number detection. Sci Rep 2024 Jan 23;14(1):2003.
- van der Vossen N, Cavalcante P, Glynn S, Achappa D, Mehmood W, Oikawa M, Vinardell T, Jamieson C. A case-control study of atypical guttural pouch empyema in Arabian foals. Vet Med Sci 2023 Jul;9(4):1599-1609.
- Ayad A, Almarzook S, Besseboua O, Aissanou S, Piórkowska K, Musiał AD, Stefaniuk-Szmukier M, Ropka-Molik K. Investigation of Cerebellar Abiotrophy (CA), Lavender Foal Syndrome (LFS), and Severe Combined Immunodeficiency (SCID) Variants in a Cohort of Three MENA Region Horse Breeds. Genes (Basel) 2021 Nov 26;12(12).
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