Evaluation of a test for identification of Arabian horses heterozygous for the severe combined immunodeficiency trait.
Abstract: To determine whether a recently developed test would correctly identify horses heterozygous for the severe combined immunodeficiency (SCID) trait. Methods: Case series. Methods: 17 healthy Arabian horses that had previously produced foals with SCID, 1 healthy Arabian foal whose dam and sire had produced foals with SCID, 4 foals with SCID, and 1 healthy non-Arabian foal. Methods: DNA was extracted from leukocytes or fibroblasts, amplified by means of polymerase chain reaction, and hybridized with probes specific for the normal and mutant alleles of the catalytic subunit of DNA-dependent protein kinase, the factor whose absence is responsible for SCID in Arabian foals. Results: Amplified DNA from the healthy non-Arabian foal hybridized only to the probe specific for the normal allele, whereas amplified DNA from the 4 foals with SCID hybridized only to the probe specific for the mutant allele. Amplified DNA from the 2 stallions and 15 mares hybridized with both probes, as did amplified DNA from the healthy foal whose dam and sire had previously produced foals with SCID, indicating that these horses were all heterozygous for the SCID trait. Conclusions: Results suggest that the genetic test will be useful in identifying Arabian horses heterozygous for the SCID trait and foals with SCID, provided that all Arabian horses with SCID have the same genetic mutation.
Publication Date: 1997-11-28 PubMed ID: 9373363
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- Journal Article
- Research Support
- Non-U.S. Gov't
- Research Support
- U.S. Gov't
- P.H.S.
Summary
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The research developed a genetic test to identify Arabian horses carrying a single copy (heterozygous) of a gene responsible for severe combined immunodeficiency (SCID).
Objective of the Study
- The main objective of the study was to verify the effectiveness of a new genetic test to identify Arabian horses that were heterozygous (carrying one copy) for the trait that causes severe combined immunodeficiency (SCID) in foals.
Methodology
- The research sample consisted of 17 healthy Arabian horses known to have produced foals with SCID, one healthy Arabian foal whose parents had produced foals with SCID, four foals confirmed to have SCID, and one healthy non-Arabian foal.
- The researchers extracted DNA from leukocytes or fibroblasts (types of cells) from the subjects.
- The DNA was then amplified using a technique known as the polymerase chain reaction and was hybridized (combined) with probes specific to either the normal gene variant or the mutated gene variant related to SCID.
- The aim was to identify which probe the DNA would bind to, thereby revealing which gene variant the subject carried.
Results
- The healthy non-Arabian foal’s DNA bound to the probe for the normal allele, indicating it did not carry the SCID mutation.
- The DNA of the four SCID foals bound only to the probe for the mutant allele, confirming they carried the mutation responsible for the disease.
- The DNA from the 17 adult horses and the healthy Arabian foal, all with known links to SCID offspring, bound to both probes, suggesting that they were carriers (heterozygous) for the SCID trait.
Conclusions
- The research indicated that this genetic test could successfully identify Arabian horses that carry a single copy of the gene causing SCID and identify SCID foals.
- The effectiveness, however, is under the assumption that all Arabian horses with SCID carry the same gene mutation.
Cite This Article
APA
Shin EK, Perryman LE, Meek K.
(1997).
Evaluation of a test for identification of Arabian horses heterozygous for the severe combined immunodeficiency trait.
J Am Vet Med Assoc, 211(10), 1268-1270.
Publication
Researcher Affiliations
- Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235-8884, USA.
MeSH Terms
- Alleles
- Animals
- Base Sequence
- Breeding
- DNA / analysis
- DNA / chemistry
- DNA / genetics
- DNA Probes / genetics
- DNA-Activated Protein Kinase
- DNA-Binding Proteins
- Female
- Fibroblasts / chemistry
- Genetic Carrier Screening / methods
- Genetic Counseling / methods
- Heterozygote
- Horse Diseases / diagnosis
- Horse Diseases / etiology
- Horse Diseases / genetics
- Horses
- Leukocytes / chemistry
- Male
- Mutation
- Nucleic Acid Hybridization
- Polymerase Chain Reaction / methods
- Polymerase Chain Reaction / veterinary
- Protein Serine-Threonine Kinases / analysis
- Protein Serine-Threonine Kinases / genetics
- Protein Serine-Threonine Kinases / physiology
- Severe Combined Immunodeficiency / diagnosis
- Severe Combined Immunodeficiency / genetics
- Severe Combined Immunodeficiency / veterinary
Grant Funding
- AI32600 / NIAID NIH HHS
Citations
This article has been cited 2 times.- 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).
- Anne Esguerra Z, Watanabe G, Okitsu CY, Hsieh CL, Lieber MR. DNA-PKcs chemical inhibition versus genetic mutation: Impact on the junctional repair steps of V(D)J recombination. Mol Immunol 2020 Apr;120:93-100.
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