Evidence map›Paper›PMID 28761322›Full record

ArticleMolecular vision2017

Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON).

Fábio Tadeu Arrojo Martins, Paulo Maurício do Amor Divino Miranda, Marcela Scabello Amaral Fernandes, Andréa Trevas Maciel-Guerra, Edi Lúcia Sartorato

Open access · greenAbstract read
PubMed Full text at PMC
In one paragraph

Article in Molecular vision, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
0.1field-weighted citation impact, top 49% 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

1 citing paper in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Pooled it
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

5 authors at 1 institution in 1 country.

Fábio Tadeu Arrojo MartinsHuman Molecular Genetics Laboratory - Center for Molecular and Genetic Engineering (CBMEG) - University of Campinas (UNICAMP) - Campinas/Brazil.
Paulo Maurício do Amor Divino MirandaHuman Molecular Genetics Laboratory - Center for Molecular and Genetic Engineering (CBMEG) - University of Campinas (UNICAMP) - Campinas/Brazil.
Marcela Scabello Amaral FernandesHuman Molecular Genetics Laboratory - Center for Molecular and Genetic Engineering (CBMEG) - University of Campinas (UNICAMP) - Campinas/Brazil.
Andréa Trevas Maciel-GuerraDepartment of Medical Genetics - Faculty of Medical Sciences- University of Campinas (UNICAMP) - Campinas/Brazil.
Edi Lúcia SartoratoHuman Molecular Genetics Laboratory - Center for Molecular and Genetic Engineering (CBMEG) - University of Campinas (UNICAMP) - Campinas/Brazil.
Universidade Estadual de Campinas (UNICAMP) · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeLeber hereditary optic neuropathy (LHON) is a mitochondrial inherited disease characterized by bilateral vision problems, such as reduced visual acuity, dyschromatopsia, and central or centrocecal scotoma. Of these cases, 95% are caused by three mutations in mitochondrial DNA (mtDNA): m.G11778A, followed by m.T14484C and m.G3460A. The remaining 5% of cases of LHON are caused by rare mutations also present in mtDNA. Although conventional molecular tools for molecular screening of LHON are becoming popular, in most cases these tools are still expensive and time-consuming and are difficult to reproduce. Therefore, to meet the need for more accurate, faster, and cheaper techniques for molecular screening, as well as make it more accessible, we used the high-throughput method TaqMan

methodsThe assay was performed for 87 individuals diagnosed with LHON or acquired optic neuropathy of unknown origin. The three main mutations were screened using the customized assay with the TaqMan

resultsThe main mutations related to LHON were detected in 34 patients with genotyping reactions, of which 27 cases had the m.G11778A mutation, and seven had the m.T14484C mutation.

conclusionsThe TaqMan

Indexed as

MutationAdolescentAdultChildDNA, MitochondrialDNA Mutational AnalysisFemaleGenotypeGenotyping TechniquesHigh-Throughput Nucleotide SequencingHumansHydrolysisMaleMiddle AgedMitochondriaOptic Atrophy, Hereditary, LeberDNA, Mitochondrial

Identifiers

PMID28761322
PMCPMC5524431
OpenAlexW2736548500

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

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.