Identification of monomorphic and polymorphic genes associated with recessive fertility defects in Holstein cows reared in Kazakhstan
Bibliographic record
Abstract
Haplotypes of candidate genes namely: apoptotic protease activating factor 1 (APAF1 p.Q579X or HH1), glycinamide ribonucleotide formyltransferase (GART or HH4), structural maintenance of chromosomes 2 (SMC2 or HH3), and haplotype cholesterol deficiency (HCD) genes associated with recessive fertility defects (loss of fertility) were investigated in imported Canadian Holstein cows reared at “Medeu Commerce” LLP breeding farm in Kazakhstan. The genotypic profiling of the APAF1/HH1, GART/HH4 fertility haplotype carriers was carried out by PCR-RFLP methods using BstC8I and Tru9I and MseI, while the genotypic profiling of the SMC2/HH3, and HCD fertility haplotype carriers was carried out using our own primer designed by internal primer marker methods. The study revealed that the PCR-RFLP diagnostic markers APAF1/HH1 and GART/HH4 for recessive fertility defects were monomorphic in the Canadian Holstein cows investigated. However, the diagnostic markers SMC2/HH3 and HCD fertility haplotype carriers (our own design diagnostic markers) were polymorphic, with frequencies of 3% and 11%, respectively, in the investigated Canadian Holstein cows. The study concluded that genetic monitoring of recessive fertility defects enables the timely identification of carriers of harmful lethal mutations, and control of the fertility haplotype elimination process.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 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) | 0.001 | 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".