Evidence map›Paper›PMID 9465076›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America1998

Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing.

J Körkkö, S Annunen, T Pihlajamaa, D J Prockop, L Ala-Kokko

Open access · greenAbstract readComparative Study
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.

0numbers the graph read from it
0cells of the map it votes in
53citing papers in PubMed
7.3field-weighted citation impact, top 2% 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

53 citing papers in PubMed, 236 citations in OpenAlex.

  1. Performance of prediction models for BRCA mutation carriage in three racial/ethnic groups: findings from the Northern California Breast Cancer Family Registry.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2009
    Trial
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  5. The Molecular Genetics of Marfan Syndrome.International journal of medical sciences · 2021
    Review
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  14. Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: findings from the Breast Cancer Family Registry.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2011
    Article
  15. Article
  16. Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2010
    Article
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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.

J KörkköCenter for Gene Therapy, Allegheny University of the Health Sciences, MCP-Hahnemann School of Medicine, Philadelphia, PA 19102, USA.
S Annunen
T Pihlajamaa
D J Prockop
L Ala-Kokko
University of Oulu · FI

Funding

MOLECULAR CHARACTERIZATION OF FAMILIAL CHONDROCALCINOSISP01AR039740 · NIAMS · THOMAS JEFFERSON UNIVERSITY · PI JIMENEZ, SERGIO A · 1989 to 2006
$6.2M
NIAMS NIH HHS AR-39740NIAMS NIH HHS P01 AR039740
6 · The paper itself

Abstract

Previously, an assay called conformation sensitive gel electrophoresis (CSGE) was developed for scanning PCR products for the presence of single-base and larger base mismatches in DNA. The assay was based on the assumption that mildly denaturing solvents in an appropriate buffer can accentuate the conformational changes produced by single-base mismatches in double-stranded DNA and thereby increase the differential migration in electrophoretic gels of heteroduplexes and homoduplexes. Here the sensitivity of assays by CSGE was improved by limiting the maximal size of the PCR products to 450 bp and making several changes in the conditions for PAGE. With the improved conditions, CSGE detected all 76 previously identified single-base changes in a large series of PCR products from collagen genes that contain multiple exons with highly repetitive and GC-rich sequences. In a survey of 736 alleles of collagen genes, CSGE detected 223 unique single-base mismatches that were confirmed by nucleotide sequencing. CSGE has the advantage over other methods for scanning PCR products in that it is simple, requires no special preparation of PCR products, has a large capacity, and does not use radioactivity.

Indexed as

Point MutationBase SequenceCollagenElectrophoresis, Agar GelHumansMolecular Sequence DataNucleic Acid ConformationNucleic Acid DenaturationCollagen

Identifiers

PMID9465076
PMCPMC19147
OpenAlexW2055985641

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.