Novel 3′<i>Rhesus box</i>sequences confound<i>RHD</i>zygosity assignment
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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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Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| 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) | 0.003 | 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 it