The carrier prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa.
Abstract: The carrier prevalence of severe combined immunodeficiency (SCID), lavender foal syndrome (LFS) and cerebellar abiotrophy (CA) in Arabian foals in South Africa was determined in order to quantify the potential impact of these conditions locally. Furthermore, the carrier prevalence of SCID prior to and following the introduction of a genetic test was compared to evaluate the effect of testing in the population. Objective: To estimate the carrier prevalence of SCID, LFS and CA in registered purebred Arabians born in South Africa in the 2004/5 and 2009/10 foaling seasons and compare the changes in prevalence in these disorders between the 2 groups of foals. Methods: Cross-sectional survey. Methods: Samples were collected from individuals randomly selected from 2 populations of purebred Arabian foals born during the 2004/5 and 2009/10 foaling seasons. Genetic testing for SCID, LFS and CA was performed on DNA extracts using specific polymerase chain reactions, with the products being analysed using fragment analysis on a genetic analyser. Results: The carrier prevalence of LFS and CA for the 2009/10 season was 11.7% (95% confidence interval [CI] 7.6-17.0%) and 5.1% (95% CI 2.5-9.1%), respectively, with no statistically significant change in prevalence between the 2004/5 and 2009/10 foaling seasons. However, the carrier prevalence of SCID was found to have decreased significantly from 6.4% (95% CI 4.8-8.3%) in the 2004/5 foals to 3.4% (95% CI 2.2-5.1%) in the 2009/10 foals (P = 0.009). Conclusions: The results of this study indicate that genetic screening of Arabian horses for SCID may have played a role in significantly reducing the carrier prevalence within the breeding population and thereby reducing the birth of clinically affected individuals. This study provides an indication of the positive effect of genetic screening for specific conditions in horses.
© 2013 EVJ Ltd.
Publication Date: 2013-11-18 PubMed ID: 24033554DOI: 10.1111/evj.12177Google Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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This research article investigates the prevalence of three genetic disorders – severe combined immunodeficiency (SCID), lavender foal syndrome (LFS), and cerebellar abiotrophy (CA) – in Arabian foals in South Africa, and how genetic testing can effectively lower the prevalence of these conditions.
Objective and Methodology
- The researchers aimed to estimate the prevalence of SCID, LFS, and CA in purebred Arabian foals born in South Africa during the 2004/05 and 2009/10 foaling seasons and note if there were any changes in the prevalence of these disorders between these two batches of foals.
- A cross-sectional survey method was employed for the study. The samples were taken from randomly-selected foals in two groups, those born during the 2004/05 and 2009/10 seasons.
- The team conducted genetic tests for SCID, LFS, and CA on DNA extracts taken from the foals. The samples were assessed using a specific polymerase chain reaction, and the products were analyzed on a genetic analyser.
Findings
- The research found that the prevalence of LFS and CA during the 2009/10 season was 11.7% and 5.1%, respectively. The team observed no significant change in the prevalence of these two disorders between the 2004/05 and 2009/10 batches.
- However, the prevalence of SCID decreased significantly from 6.4% in the 2004/05 batch to 3.4% in the 2009/10 batch (P = 0.009).
Conclusions
- The study concluded that genetic screening might have aided in the considerable reduction of SCID within the breeding population, thereby diminishing the birth of foals clinically affected by the disorder.
- The findings provide an indication of the positive effect of genetic screening in dealing with specific conditions in horses, substantiating the value of extensive genetic testing in the field of equine breeding and health management.
Cite This Article
APA
Tarr CJ, Thompson PN, Guthrie AJ, Harper CK.
(2013).
The carrier prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa.
Equine Vet J, 46(4), 512-514.
https://doi.org/10.1111/evj.12177 Publication
Researcher Affiliations
- Department of Production Animal Studies, Faculty of Veterinary Science, University of Pretoria, Onderstepoort, South Africa.
MeSH Terms
- Animals
- Genetic Predisposition to Disease
- Heterozygote
- Horse Diseases / epidemiology
- Horse Diseases / genetics
- Horses
- Male
- Severe Combined Immunodeficiency / epidemiology
- Severe Combined Immunodeficiency / genetics
- Severe Combined Immunodeficiency / veterinary
- South Africa / epidemiology
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.
- 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).
- Aleman M, Finno CJ, Weich K, Penedo MCT. Investigation of Known Genetic Mutations of Arabian Horses in Egyptian Arabian Foals with Juvenile Idiopathic Epilepsy. J Vet Intern Med 2018 Jan;32(1):465-468.
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