Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs
Abstract
1. Introduction
2. Materials and Methods
2.1. Ethics Statement
2.2. Animals and DNA Samples
2.3. Clinical and Further Examination
2.4. Postmortem Examination, Histology, and Bacteriology
2.5. Genetic Analyses
2.6. Whole-Genome Sequencing
2.7. Availability of Data and Material
3. Results
3.1. Clinical and Further Examination
3.2. Postmortem Examination, Histology, and Bacteriology
3.3. Genetic Analyses
3.4. Whole-Genome Sequencing
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Parameters | Case 1 | Case 2 | Case 3 |
---|---|---|---|
Colour | Light red | Red | Red |
Transparency | Cloudy | Cloudy | Cloudy |
Protein (g/l) | 16 | 26 | 44 |
Specific weight | 1.016 | 1.022 | 1.032 |
Cell count (10 × 109/l) | 4.50 | 2.70 | 13.03 |
Conclusion | Hygroma or seroma | Hygroma or seroma and blood | Hygroma or seroma and mild inflammation |
Strategy 1 | Purebred Piètrain | Crossbred | 10 Unrelated Controls | No. of Variants with Different Predicted Impact | after Filtering against Validation Cohort | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Case 1 | Dam/Sire of Case 1 | Full-sib Of Case 1 | Case 3 | High | Moderate | Low | High | Moderate | Low | ||
Piètrain-specific simple AR | 1/1 | 0/1 | 0/1 or 0/0 | 0/0 | 0/0 | 1 | 33 | 37 | 0 | 2 | 5 |
Piètrain-specific compound heterozygous AR | 0/1 | 0/1 or 0/0 | 0/1 or 0/0 | 0/0 | 0/0 | 0 | 4 | 9 | 0 | 1 | 1 |
Piètrain-specific XR | 1/- | 0/1/0/- | 0/- | 0/0 | 0/0 | 0 | 2 | 5 | 0 | 2 | 5 |
Piètrain-specific AD (de novo) | 0/1 | 0/0 | 0/0 | 0/0 | 0/0 | 0 | 6 | 7 | 0 | 3 | 3 |
Case 3-specific AR/AD | 0/0 | 0/0 | 0/0 | 0/1 or 1/1 | 0/0 | 50 | 872 | 1663 | 12 | 189 | 299 |
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Letko, A.; Schauer, A.M.; Derks, M.F.L.; Grau-Roma, L.; Drögemüller, C.; Grahofer, A. Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs. Genes 2021, 12, 207. https://doi.org/10.3390/genes12020207
Letko A, Schauer AM, Derks MFL, Grau-Roma L, Drögemüller C, Grahofer A. Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs. Genes. 2021; 12(2):207. https://doi.org/10.3390/genes12020207
Chicago/Turabian StyleLetko, Anna, Alexandria Marie Schauer, Martijn F. L. Derks, Llorenç Grau-Roma, Cord Drögemüller, and Alexander Grahofer. 2021. "Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs" Genes 12, no. 2: 207. https://doi.org/10.3390/genes12020207
APA StyleLetko, A., Schauer, A. M., Derks, M. F. L., Grau-Roma, L., Drögemüller, C., & Grahofer, A. (2021). Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs. Genes, 12(2), 207. https://doi.org/10.3390/genes12020207