Evidence map›Paper›PMID 12060695›Full record

ArticleNucleic acids research2002

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.

Jan P Schouten, Cathal J McElgunn, Raymond Waaijer, Danny Zwijnenburg, Filip Diepvens, Gerard Pals

Registry-linked trialOpen access · bronzeAbstract read
In one paragraph

Article in Nucleic acids research, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01291745 (Collection of Biological Data With Potential Prognostic Relevance in Patients With MYELODYSPLASTIC SYNDROMES), which is not on this map. Cited by 874 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
874citing papers in PubMed, 1 pooled it
30.7field-weighted citation impact, top 1% 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.

NCT01291745 unknown statusnot on this mapstarted 2010, after this paper: background citation

Collection of Biological Data With Potential Prognostic Relevance in Patients With MYELODYSPLASTIC SYNDROMES

TypeobservationalSponsorFondazione Amelia Scorza OnlusRan2010 to 2015Enrolled200ConditionsMyelodysplastic Syndrome
3 · Its place in the literature

Who cites it

874 citing papers in PubMed, 1 synthesis or guideline pooled it, 2,679 citations in OpenAlex.

  1. Guideline
  2. Trial
  3. Article
  4. Article
  5. Article
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  9. Association ofAnimals : an open access journal from MDPI · 2026
    Article
  10. Article
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  12. Observational
  13. Article
  14. Article
  15. Article
  16. Molecular syndromology · 2026
    Article
  17. Article
  18. Article
  19. Article
  20. Article

814 more citing papers are in PubMed but not listed here.

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

6 authors at 1 institution in 1 country.

Jan P SchoutenMRC-Holland, Hudsonstraat 68, 1057SN Amsterdam, The Netherlands. schouten@mrc-holland.com
Cathal J McElgunn
Raymond Waaijer
Danny Zwijnenburg
Filip Diepvens
Gerard Pals
MRC Holland (Netherlands) · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe a new method for relative quantification of 40 different DNA sequences in an easy to perform reaction requiring only 20 ng of human DNA. Applications shown of this multiplex ligation-dependent probe amplification (MLPA) technique include the detection of exon deletions and duplications in the human BRCA1, MSH2 and MLH1 genes, detection of trisomies such as Down's syndrome, characterisation of chromosomal aberrations in cell lines and tumour samples and SNP/mutation detection. Relative quantification of mRNAs by MLPA will be described elsewhere. In MLPA, not sample nucleic acids but probes added to the samples are amplified and quantified. Amplification of probes by PCR depends on the presence of probe target sequences in the sample. Each probe consists of two oligonucleotides, one synthetic and one M13 derived, that hybridise to adjacent sites of the target sequence. Such hybridised probe oligonucleotides are ligated, permitting subsequent amplification. All ligated probes have identical end sequences, permitting simultaneous PCR amplification using only one primer pair. Each probe gives rise to an amplification product of unique size between 130 and 480 bp. Probe target sequences are small (50-70 nt). The prerequisite of a ligation reaction provides the opportunity to discriminate single nucleotide differences.

Indexed as

DNA-Binding ProteinsAdaptor Proteins, Signal TransducingBase SequenceCarrier ProteinsCell LineChromosome AberrationsDNA Mutational AnalysisExonsFemaleGenes, BRCA1HumansMaleMutationMutL Protein Homolog 1MutS Homolog 2 ProteinNeoplasm ProteinsAdaptor Proteins, Signal TransducingCarrier ProteinsDNA-Binding ProteinsMLH1 protein, humanMSH2 protein, humanMutL Protein Homolog 1MutS Homolog 2 ProteinNeoplasm ProteinsNuclear ProteinsOligonucleotide ProbesProto-Oncogene Proteins

Identifiers

PMID12060695
PMCPMC117299
OpenAlexW2113926943

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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.