Evidence map›Paper›PMID 12762414›Full record

ArticleJournal of assisted reproduction and genetics2003

Rapid detection of the deltaF508 mutation in single cells using DHPLC: implications for preimplantation genetic diagnosis.

Anne Girardet, Philippe Cathala, Mireille Claustres

Abstract read
In one paragraph

Article in Journal of assisted reproduction and genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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. 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

3 authors.

Anne GirardetLaboratoire de Génétique Moléculaire, Centre Hospitalo-Universitaire, Montpellier, France. girardet@igh.cnrs.fr
Philippe Cathala
Mireille Claustres

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposePractice of preimplantation genetic diagnosis (PGD) requires efficient amplification and analysis techniques. We have tested Denaturing High Performance Liquid Chromatography (DHPLC) to screen the deltaF508 mutation in heterozygous single cells in order to assess its usefulness for PGD of cystic fibrosis.

methodsOne hundred and two single lymphocytes--including N/N and N/deltaF508--were studied. F508 locus was amplified by nested PCR followed by the analysis of PCR products by DHPLC in non-denaturing conditions.

resultsOn the basis of PCR-amplified product analysis, total efficiency of amplification was 98.78% (101/102), and allele dropout (ADO) rate was 3.7% (3/81). For each sample, results were obtained in less than 4 min with high resolution.

conclusionsDHPLC is a rapid and efficient technique to detect the deltaF508 mutation in single cells and is therefore appropriate for clinical application of preimplantation genetic diagnosis of cystic fibrosis.

Indexed as

MutationChromatography, High Pressure LiquidCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorFemaleHeterozygoteHomozygoteHumansLymphocytesPolymerase Chain ReactionPregnancyPreimplantation DiagnosisCFTR protein, humanCystic Fibrosis Transmembrane Conductance Regulator

Identifiers

PMID12762414
PMCPMC3455635

What OpenQuestion holds

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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.