Narrowing of the autosomal recessive polycystic kidney disease critical region in a Newfoundland family
Bibliographic record
Abstract
A Newfoundland family, consisting of three nuclear families, was identified as having polycystic kidney and liver disease and found to be descended from two founding ancestral pairs. Using homozygosity mapping with polymorphic microsatellite markers, three disease loci, NPH-1, -2 and mouse bpk/jcpk were excluded and linked the disease in sibships A and B to the ARPKD disease loci on chromosome 6. Due to a meiotic recombination in one of the individuals in sibship A, the ARPKD critical region was narrowed to a 1cM region. The disease in sibship C was not linked to either of the abovementioned loci and kidney ultrasound suggested that the disease was not ADPKD. Because the gene which causes ARPKD is, as yet, unknown, it was necessary to attempt to identify it through positional cloning. A PAC contiguous map was constructed to allow the examination of smaller, individual pieces of DNA within the region. Each clone was subcloned and screened for microsatellites. Three were identified however none was variable in this family. The complete sequence of clone 108c2 had been published to the public domain and examination revealed a large repeat region which was analyzed and found to be polymorphic. This marker allowed the ARPKD region to be further refined to an area of approximately 560kb in size, completely covered by PAC clones. This region contains 10 known gene-oriented clusters representing different transcripts including NFYA, TFAP2B, MDFI and APOBEC2 (http://www.ncbi.nlm.nih.gov/ UniGene).
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 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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 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".