The <scp>JR</scp> blood group system (<scp>ISBT</scp> 032): molecular characterization of three new null alleles
Bibliographic record
Abstract
BACKGROUND: Jr(a) (ISBT 901005) is a high-prevalence antigen unassigned to a blood group system. People lacking this antigen have been found in all populations studied but most commonly in Asians. Two recent reports established that ABCG2-null alleles encode the Jr(a-) phenotype and these studies provided the impetus to study other Jr(a-) individuals. STUDY DESIGN AND METHODS: Blood samples were part of our rare donor-patient collection. DNA was isolated and analyzed by standard techniques. RESULTS: In samples from 13 Jr(a-) study subjects, we found six alleles with nonsense nucleotide changes, three (c.784T, c.1591T, and c.337T) were novel. Twelve of the samples were homozygous for nonsense single-nucleotide polymorphisms (SNPs): eight were c.376T, two were c.706T, one was c.784T, and one was c.1591T. Each of these alleles predicts a truncated ABCG2 product, Gln126Stop, Arg236Stop, Gly262Stop, and Gln531Stop, respectively. One study subject was heterozygous for two nonsense SNPs: c.337C/T (Arg113Stop) and c.736C/T (Arg246Stop). CONCLUSIONS: Jr(a) is the sole antigen in the newly established JR blood group system (ISBT 032001). The previous ISBT designation (901005) is now obsolete. Since ABCG2null alleles define the Jr(a-) phenotype, an explanation for why no antithetical low-prevalence antigen to Jr(a) has been found, and also why anti-Jr(a) made by people with any of these JRnull alleles are mutually compatible has been determined. Based on our findings DNA-based genotyping can be developed to replace the serologic methods that are currently used to identify Jr(a-) blood donors.
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How this classification was reachedexpand
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 | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 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) | 0.000 | 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 teacher head, 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".