Prevalence of mutation carriers associated with glycogen branching enzyme deficiency (GBED) in quarter horses
Bibliographic record
Abstract
The deficiency of glycogen branching enzyme [GBED] in horses is a fatal recessive hereditary disease, mainly characterized by abortions, stillbirths and birth of weak foals. The GBED is caused by a mutation in the gene GBE1. The aim of this study was to determine the prevalence of mutation carriers causing GBED in a population of Quarter horse animals used in five equestrian sports practiced in Brazil. Samples of blood and were obtained from 740 animals. After DNA purification, PCR reactions, automated direct sequencing and sequence analysis were performed. Of the 740 animals tested 59 were considered heterozygous for the mutation responsible for GBED representing a prevalence of 7.97% in the population studied. The prevalences of heterozygotes were higher in cutting (20%) and reining (10%) subgroups, followed by barrel racing (5%) and halter (3%), were not found heterozygous for the racing subgroup. The results demonstrate that the mutation is present in the Quarter horse Brazilian herd, and suggests that the disease (homozygous recessive) may be present without being noticed. So the GBED should be considered in the differential diagnosis in cases of abortion and stillbirths in Brazilian Quarter horses and strategies should be developed to prevent transmission of the mutation
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".