Brachyspina is a genetic disorder found in Holstein-Friesian cattle. It is a fatal hereditary defect. This means that the malformation is so severe that calves are stillborn or die shortly after birth. The term brachyspina means “shortened spine,” and it is the main anatomical feature of individuals affected by this defect. This disorder can be associated with a number of other developmental abnormalities. In addition to spinal deformity, these include underdeveloped or deformed organs and low birth weight calves.
The genetic basis of brachyspin is a deletion of a DNA fragment in the FANCI gene on chromosome 21 (BTA21), leading to a protein with an altered structure. The lack of a properly formed protein of this group is associated with disorders of DNA interstrand cross-link repair.
A carrier carrying one copy of the defective gene does not show any symptoms of the mutation, but may pass the gene to his descendants. The condition for inheriting the described genetic disorder is the presence of the mutated gene in both parents.
| Result | Interpretation |
| BYS | SICK |
| BYC | CARRIER |
| BYF | FREE |
REFERENCES #
- Charlier C., Agerholm JS., Coppieters W., Karlskov-Mortensen P., Li W., de Jong G., Fasquelle C., Karim L., Cirera S., Cambisano N., Ahariz N., Mullaart E., Georges M. & Fredholm M. (2012). A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina. PLoS One, 7(8).
- Ruść A. & Kamiński S. (2015). Detection of Brachyspina carriers within Polish Holstein-Friesian bulls. Polish Journal of Veterinary Sciences, 18(2), 453-4.