[Mutation analysis of Cx26 gene in Chinese hereditary nonsyndromic deafness sufferers].
Bibliographic record
Abstract
OBJECTIVE: To analyze the mutations in the code region of Cx26 gene in Chinese hereditary nonsyndromic hearing impairment (NSHI) sufferers. METHODS: Thirty-three cases (29 cases in the families of 8 students who were picked out from the Deafness and Muteness School of Tianjin, 2 cases as control and 2 normal cases of genetic counseling) were included in this study. The blood samples were obtained to distill the DNA templates. Using polymerase chain reaction (PCR), the code region of Cx26 gene was amplified. The mutations were screened by restriction endonucleases fingerprinting-single strand conformation polymorphism (REF-SSCP). Afterwards we inspected the polymorphous changes or mutations of these segments with DNA sequence. RESULTS: There were 30 cases with the nucleotide changes in the Cx26 code region. The rate was 90.9% (30/33). Eight kinds of mutations were found, 79G-->A, 109G-->A, 161A-->T, 235delC, 240G-->A, 341A-->G, 571T-->C and 608T-->C. 161A-->T, 240G-->A and 571T-->C were detected primarily. There were 3 cases with 235delC in 22 deafness sufferers and the rate was 13.64% (3/22). CONCLUSIONS: The 235delC of Cx26 gene is the main mutation in Chinese NSHI sufferers, and in NSHI cases many polymorphous changes exist.
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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 | 0.000 |
| 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".