Evidence map›Paper›PMID 28225033›Full record

ArticleScientific reports2017

Rapid and Reliable Detection of Nonsyndromic Hearing Loss Mutations by Multicolor Melting Curve Analysis.

Xudong Wang, Yongjun Hong, Peihong Cai, Ning Tang, Ying Chen, Tizhen Yan, Yinghua Liu, Qiuying Huang, Qingge Li

Open access · goldAbstract readComparative Study
In one paragraph

Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.6field-weighted citation impact, top 37% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 18 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Observational
  5. Selection of Diagnostically Significant Regions of theInternational journal of molecular sciences · 2022
    Article
  6. Article
  7. A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    Article
  8. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 1 country.

Xudong WangState Key Laboratory of Cellular Stress Biology, State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics, Engineering Research Centre of Molecular Diagnostics, Ministry of Education, School of Life Sciences, Xiamen University, Xiamen, Fujian 361102, China.
Yongjun HongDepartment of Otorhinolaryngology, Zhongshan Hospital of Xiamen, Xiamen University, Xiamen, Fujian, 361004, China.
Peihong CaiState Key Laboratory of Cellular Stress Biology, State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics, Engineering Research Centre of Molecular Diagnostics, Ministry of Education, School of Life Sciences, Xiamen University, Xiamen, Fujian 361102, China.
Ning TangDepartment of Medical Genetics, Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou Maternal and Child Health Hospital, Liuzhou, Guangxi 545001, China.
Ying ChenNanjing Medical University Affiliated Wuxi Maternity and Child Health Care Hospital, Jiangsu 215002, China.
Tizhen YanDepartment of Medical Genetics, Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou Maternal and Child Health Hospital, Liuzhou, Guangxi 545001, China.
Yinghua LiuDepartment of Neonatology, Central Lab Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, Jiangsu 215002, China.
Qiuying HuangState Key Laboratory of Cellular Stress Biology, State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics, Engineering Research Centre of Molecular Diagnostics, Ministry of Education, School of Life Sciences, Xiamen University, Xiamen, Fujian 361102, China.
Qingge LiState Key Laboratory of Cellular Stress Biology, State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics, Engineering Research Centre of Molecular Diagnostics, Ministry of Education, School of Life Sciences, Xiamen University, Xiamen, Fujian 361102, China.
Xiamen University · CNLiuzhou Maternal and Child Health Hospital · CNNanjing Medical University · CNZhongshan Hospital of Xiamen University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hearing loss is a common birth defect worldwide. The GJB2, SLC26A4, MT-RNR1 and MT-TS1 genes have been reported as major pathogenic genes in nonsyndromic hearing loss. Early genetic screening is recommended to minimize the incidence of hearing loss. We hereby described a multicolor melting curve analysis (MMCA)-based assay for simultaneous detection of 12 prevalent nonsyndromic hearing loss-related mutations. The three-reaction assay could process 30 samples within 2.5 h in a single run on a 96-well thermocycler. Allelic types of each mutation could be reproducibly obtained from 10 pg ~100 ng genomic DNA per reaction. For the mitochondrial mutations, 10% ~ 20% heteroplasmic mutations could be detected. A comparison study using 501 clinical samples showed that the MMCA assay had 100% concordance with both SNaPshot minisequencing and Sanger sequencing. We concluded that the MMCA assay is a rapid, convenient and cost-effective method for detecting the common mutations, and can be expectedly a reliable tool in preliminary screening of nonsyndromic hearing loss in the Chinese Han population.

Indexed as

Genetic Predisposition to DiseaseMutationDeafnessEarly DiagnosisFemaleHumansMaleMitochondriaPolymerase Chain ReactionSequence Analysis, DNATransition Temperature

Identifiers

PMID28225033
PMCPMC5320477
OpenAlexW2591368805

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.