Genetic testing as a tool for diagnosis of congenital stationary night blindness (CSNB) in white spotted breeds in Poland.
Abstract: Congenital stationary night blindness (CSNB) has been connected to the leopard complex spotting phenotype (LP) in various horse breeds. CSNB associated with LP is thought to be caused by a 1378 bp insertion in TRPM1, with homozygotes being nightblind and having few to no spots of pigment in their white patterned area. This study aimed to assess the prevalence of CSNB alleles in tarant-colored horses in Poland through a three-primer system for an allele-specific Polymerase Chain Reaction (PCR). The TRPM1 gene insertion was genotyped in 221 horses belonging to Małopolska, Felin and Shetland Ponies. The chi-square (χ²) test indicates, that χ2 <5.991 suggesting that the population is in Hardy-Weinberg equilibrium. Of the horses carrying the LP allele, 7 % of Małopolska horses, 4,8 % of Felin ponies and 6.25 % of the Shetland ponies were homozygous for the TRMP1 insertion, indicating low-light vision issues, crucial for horses working in dim conditions. This study highlights the utility of genetic testing for accurate phenotype evaluation, and clinical and breeding management.
Copyright © 2025 Elsevier Inc. All rights reserved.
Publication Date: 2025-02-26 PubMed ID: 40021102DOI: 10.1016/j.jevs.2025.105405Google Scholar: Lookup
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Summary
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The research article is a study on the prevalence of the gene associated with night blindness in horses in Poland. The researchers utilized genetic testing, specifically a version of Polymerase Chain Reaction, to ascertain this.
Background
- Congenital stationary night blindness (CSNB) is a condition associated with the leopard complex spotting phenotype (LP) in certain horse breeds.
- CSNB is thought to be caused by a 1378 bp insertion in the TRPM1 gene. Horses who are homozygous, or carry two copies of this mutation, tend to have symptoms of night blindness and typically have little to no spots of pigment in their white patterned areas.
Research Objective
- The objective of this study was to assess the prevalence of CSNB alleles in “tarant-colored” horses in Poland. This was achieved through the development and implementation of a three-primer system for allele-specific Polymerase Chain Reaction (PCR).
Procedure and Findings
- The TRPM1 gene insertion was genotyped in a sample of 221 horses. The horse breeds analyzed include Małopolska, Felin ponies, and Shetland ponies.
- A statistical method, the chi-square (χ²) test, was used to determine that the population is in Hardy-Weinberg equilibrium – this suggests that allele and genotype frequencies in the population are constant from generation to generation unless specific disturbing influences are introduced.
- The results revealed that, of the horses carrying the LP allele, 7% of Małopolska horses, 4.8% of Felin ponies, and 6.25% of Shetland ponies were homozygous for the TRPM1 insertion.
- These findings imply that these horses are likely to have low-light vision issues, a factor which is crucial to consider especially for horses working in dim light conditions.
Importance and Conclusion
- This research study emphasizes the importance and effectiveness of genetic testing for precise phenotype determination.
- Genetic testing can not only assist in correct clinical diagnosis but also help in better breeding management practices by identifying potential inheritable health conditions.
Cite This Article
APA
Stefaniuk-Szmukier M, Bieniek A, Ropka-Molik K, Bellone RR.
(2025).
Genetic testing as a tool for diagnosis of congenital stationary night blindness (CSNB) in white spotted breeds in Poland.
J Equine Vet Sci, 147, 105405.
https://doi.org/10.1016/j.jevs.2025.105405 Publication
Researcher Affiliations
- Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland. Electronic address: monika.stefaniuk@iz.edu.pl.
- Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland.
- Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland.
- Veterinary Genetics Laboratory, Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA, USA; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA, USA.
Conflict of Interest Statement
Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: K.R.M, M.S.S., and A.B., are affiliated with the National Research Institute of Animal Production, Department of Animal Molecular Biology. Department offers genetic testing but not for LP. R.R.B., is affiliated with the Veterinary Genetics Laboratory at UC Davis, a facility that offers genetic testing for LP and other veterinary genetics dialogistic testing.
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