A new <i>DEL</i> variant caused by exon 8 deletion
Bibliographic record
Abstract
BACKGROUND: A 28-year-old woman of Lebanese origin experienced two stillbirths. At the time, serology typed her red blood cells as being group A D- and found an anti-D in her serum sample. Molecular biology analysis, however, showed that she was in fact RHD+. STUDY DESIGN AND METHODS: To better characterize this case, a full investigation including family members was undertaken. Classical serology techniques and DNA and RNA analysis were performed whenever possible. RESULTS: Serology results showed that the patient's father and two brothers were D-. RHD genotyping demonstrated that her two brothers were indeed RHD+. Polymerase chain reaction (PCR) amplification was performed on each RHD 10 exons. Exon 8 did not amplify for the patient, her father, and her two brothers. Her mother and sister had exon 8. Messenger RNA analysis showed five RHD transcripts. The longest transcript was missing exon 8 but had a part of intron 7 inserted instead. Genomic DNA sequencing revealed a 995-bp deletion including part of intron 7, exon 8, and intron 8. This mutation, RHD(delEx8), was found to express a DEL in adsorption-elution. To facilitate the screening of this new DEL allele, a simple PCR-based assay was designed. CONCLUSION: This novel allele represents the first observation of a large deletion at the genomic level within the RHD gene in Caucasian persons.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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".