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Record W1603262237 · doi:10.1111/trf.12973

<scp>SARA</scp>: a “new” low‐frequency<scp>MNS</scp>antigen (<scp>MNS47</scp>) provides further evidence of the extreme diversity of the<scp>MNS</scp>blood group system

2014· article· en· W1603262237 on OpenAlexaffabout
Rhiannon McBean, Catherine A. Hyland, Julia L. Hendry, Meer‐Taher Shabani‐Rad, Robert L. Flower

Bibliographic record

VenueTransfusion · 2014
Typearticle
Languageen
FieldMedicine
TopicBlood groups and transfusion
Canadian institutionsCalgary Laboratory Services
Fundersnot available
KeywordsSanger sequencingGeneticsBiologyExome sequencingAntigenMolecular biologyComputational biologyGeneDNA sequencingMutation

Abstract

fetched live from OpenAlex

BACKGROUND: Until recently, SARAH (SARA) was a low-frequency antigen within the 700 series (700.052). SARA was discovered in Australia and subsequently described in Canada where anti-SARA was implicated in severe hemolytic disease of the fetus and newborn (HDFN). This study investigated whether SARA could be recategorized into an existing, or novel, blood group system. STUDY DESIGN AND METHODS: Serologically typed Australian SARA family members (n = 9) were exome sequenced followed by bioinformatics analysis. Sanger sequencing of Exon 3 of GYPA of Australian (n = 9) and Canadian (n = 9) family members was then performed, as were peptide inhibition studies. RESULTS: Exome sequencing identified 499,329 single-nucleotide variants (SNVs) within the nine individuals. Filtering excluded SNVs with an NCBI dbSNP ID (n = 482,177) and non-protein coding SNVs (n = 14,008); for the remaining 3144 SNVs, only one, c.240G>T of GYPA encoding p.Arg80Ser, was present in all six SARA-positive individuals. Sanger sequencing confirmed the presence of c.240G>T in the Australian SARA-positive individuals and demonstrated the same genetic basis in the Canadian SARA family. For a peptide representing the SARA sequence, inhibition of anti-SARA against SARA-positive cells was 84.6% at a concentration of 1.0 mg/mL. CONCLUSION: We provide evidence that the SARA antigen is encoded by a SNV on GYPA and SARA has been reassigned to the MNS blood group system, now MNS47. This discovery provides a basis for application of genetic approaches in SARA typing when clinically indicated, for example, in HDFN.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.002
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesMeta-epidemiology (narrow)
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.215
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.002
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0020.002
Bibliometrics0.0000.002
Science and technology studies0.0010.001
Scholarly communication0.0000.001
Open science0.0020.001
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0000.000

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.

Opus teacher head0.023
GPT teacher head0.217
Teacher spread0.194 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; both teacher heads agree on what is shown here.

Study designBench or experimental
Domainnot available
GenreEmpirical

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".

Quick stats

Citations15
Published2014
Admission routes2
Has abstractyes

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