The Use of Genomic Screening for the Detection of Chromosomal Abnormalities in the Domestic Horse: Five New Cases of 65,XXY Syndrome in the Pura Raza Español Breed
Abstract
:Simple Summary
Abstract
1. Introduction
2. Materials and Methods
2.1. Animal Enrolment, Parentage Testing, and Cytogenetic Screening
2.2. Resampling of CNA Candidates
2.3. STR-Based Chromosomal Diagnosis
2.4. SNP Genotyping and CNA Genomic Analysis
2.5. Cell Culture and Fluorescent In Situ Hybridization (FISH) Chromosomal Analysis
2.6. Genetic Analysis and Inheritance Estimation
3. Results
3.1. Detection of 65,XXY CNA by Molecular Screening
3.2. Animal Phenotyping
3.3. Sex-Linked STR Chromosomal Analysis
3.4. SNP-Based Chromosomal Analysis
3.5. In Situ Hybridization Analysis
3.6. Genetic Analysis
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Horse 1 | Horse 2 | Horse 3 | Horse 4 | Horse 5 | ||
---|---|---|---|---|---|---|
ECAX markers | TKY38 | 105/129 | 129 | 111/129 | 107/129 | 105/129 |
UCDEQ502 | 164 | 164/174 | 164 | 116/174 | 162/164 | |
LEX003 | 194/210 | 214/216 | 206/210 | 208/210 | 212/214 | |
LEX026 | 312/314 | 316 | 308 | 314 | 300/314 | |
TKY270 | 168 | 168/170 | 168/172 | 170/172 | 170/172 | |
AMEX | + | + | + | + | + | |
ECAY markers | AMEY | + | + | + | + | + |
EcaYH12 | + | + | + | + | + | |
SRY | + | + | + | + | + |
ECA | 5 | 15 | 25 | PAR | NO-PAR | Y | |
---|---|---|---|---|---|---|---|
Horse 1 | HET (%) | 31.61 | 31.78 | 29.59 | 40.00 | 32.83 | 0.00 |
LRR | 0.04 | 0.08 | 0.04 | 0.14 | 0.03 | −0.05 | |
BAF dip test | 0.95 | 0.99 | 0.99 | 0.25 | 0.99 | 1 | |
Horse 2 | HET (%) | 24.95 | 30.87 | 26.92 | 63.89 | 26.47 | 4.13 |
LRR | 0.03 | 0.06 | −0.01 | 0.10 | 0.07 | −0.22 | |
BAF dip test | 1 | 1 | 0.89 | 0.04 | 0.93 | 0.84 | |
Horse 3 | HET (%) | 22.87 | 25.19 | 27.55 | 50.00 | 29.19 | 3.25 |
LRR | 0.02 | 0.02 | −0.03 | 0.13 | 0.04 | −0.16 | |
BAF dip test | 0.97 | 0.99 | 0.97 | 0.11 | 1 | 0.92 | |
Horse 4 | HET (%) | 31.87 | 32.95 | 29.99 | 58.33 | 28.63 | 2.44 |
LRR | 0.04 | 0.06 | 0.03 | 0.12 | 0.03 | −0.38 | |
BAF dip test | 0.96 | 0.98 | 1 | 0 | 1 | 1 | |
Horse 5 | HET (%) | 30.87 | 29.87 | 23.04 | 52.78 | 32.56 | 2.44 |
LRR | 0.02 | 0.04 | 0.01 | 0.12 | 0.03 | −0.39 | |
BAF dip test | 0.98 | 0.94 | 0.79 | 0.09 | 0.99 | 1 |
Id | Born | F | F of the Mare | Foals per Mare | Age of the Mare | Average fij |
---|---|---|---|---|---|---|
Horse 1 | 27 April 2021 | 5.13% | 18.89% | 2 | 8 | 5.19% |
Horse 2 | 3 March 2022 | 5.86% | 6.37% | 3 | 9 | 5.91% |
Horse 3 | 12 December 2022 | 5.58% | 5.03% | 6 | 10 | 5.75% |
Horse 4 | 28 March 2023 | 7.59% | 4.56% | 8 | 16 | 5.06% |
Horse 5 | 15 July 2023 | 4.54% | 5.92% | 1 | 9 | 5.09% |
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Valera, M.; Karlau, A.; Anaya, G.; Bugno-Poniewierska, M.; Molina, A.; Encina, A.; Azor, P.J.; Demyda-Peyrás, S. The Use of Genomic Screening for the Detection of Chromosomal Abnormalities in the Domestic Horse: Five New Cases of 65,XXY Syndrome in the Pura Raza Español Breed. Animals 2024, 14, 2560. https://doi.org/10.3390/ani14172560
Valera M, Karlau A, Anaya G, Bugno-Poniewierska M, Molina A, Encina A, Azor PJ, Demyda-Peyrás S. The Use of Genomic Screening for the Detection of Chromosomal Abnormalities in the Domestic Horse: Five New Cases of 65,XXY Syndrome in the Pura Raza Español Breed. Animals. 2024; 14(17):2560. https://doi.org/10.3390/ani14172560
Chicago/Turabian StyleValera, Mercedes, Ayelén Karlau, Gabriel Anaya, Monika Bugno-Poniewierska, Antonio Molina, Ana Encina, Pedro J. Azor, and Sebastián Demyda-Peyrás. 2024. "The Use of Genomic Screening for the Detection of Chromosomal Abnormalities in the Domestic Horse: Five New Cases of 65,XXY Syndrome in the Pura Raza Español Breed" Animals 14, no. 17: 2560. https://doi.org/10.3390/ani14172560