Novel 3′<i>Rhesus box</i>sequences confound<i>RHD</i>zygosity assignment
Bibliographic record
Abstract
BACKGROUND: Paternal RHD zygosity is required for genetic counseling and management of HDN caused by anti-D. The most common D- haplotype is due to the deletion of RHD, which results in the formation of a hybrid Rhesus box, theoretically through the recombination of 5' and 3'Rhesus boxes. STUDY DESIGN AND METHODS: The validity of Rhesus box PstI analysis was assessed to determine RHD zygosity by correlating D phenotype, most probable genotype, and Rhesus box PCR-RFLP. RHD exons were examined, and a 501-bp Rhesus box fragment was sequenced that flanked the polymorphic PstI site. RESULTS: Rhesus box analysis and the most probable genotype differed for 60 of 200 of the samples (30%). The incorrect zygosity assignment by the most probable genotype method is the likely reason for the difference. However, 8 of 328 samples showed Rhesus box copy numbers that were inconsistent with the D phenotype. Two D- samples with one hybrid Rhesus box had a nonfunctional RHD. Six D+ samples appeared to have two copies of the hybrid Rhesus box due to novel 3'Rhesus boxes that contained nucleotide polymorphisms previously assigned to the 5' and hybrid Rhesus boxes. All eight samples were from people of black descent, as determined by the GATA-1 silencing mutation at the FY locus. CONCLUSION: Rhesus box PCR-RFLP analysis for RHD zygosity assignment is confounded by the presence of nonfunctional RHD+ (2.3% of D-) and novel, low frequency (0.9% of all alleles) 3'Rhesus box sequences.
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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 | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 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".