Evidence map›Paper›PMID 8659521›Full record

ArticleAmerican journal of human genetics1996

Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus.

S M Purandare, R Cawthon, L M Nelson, S Sawada, W S Watkins, K Ward, L B Jorde, D H Viskochil

Open access · greenAbstract read
In one paragraph

Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.3field-weighted citation impact, top 21% 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

5 citing papers in PubMed, 23 citations in OpenAlex.

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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

8 authors at 1 institution in 1 country.

S M PurandareDepartment of Pediatrics, University of Utah, Salt Lake City 84112, USA.
R Cawthon
L M Nelson
S Sawada
W S Watkins
K Ward
L B Jorde
D H Viskochil
University of Utah · US

Funding

LINKAGE DISEQUILIBRIUM IN DNA POLYMORPHISMSR01HG000347 · NHGRI · UNIVERSITY OF UTAH · PI JORDE, LYNN · 1990 to 1990
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MUTATIONS IN NEUROFIBROMATOSIS 1 IN HUMAN TUMORSR55CA057511 · NCI · UNIVERSITY OF UTAH · PI CAWTHON, RICHARD MOORE · 1992 to 1992
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NCI NIH HHS CA 57511-01NHGRI NIH HHS HG 00347
6 · The paper itself

Abstract

Six polymorphisms across the NF1 gene have been adapted for genotyping through application of PCR-based assays. Three exon-based polymorphisms--at positions 702, 2034, and 10647 in the NF1 cDNA--were genotyped by mutagenically separated PCR (MS-PCR). A fourth polymorphism, DV1.9, is an L1 insertion element in intron 30, and the other two polymorphisms, GXAlu and EVI-20, are short tandem repeats in intron 27b. All the polymorphisms were evaluated in a cohort of 110 CEPH individuals who previously had been analyzed by use of eight RFLPs at the NF1 locus. Pairwise linkage-disequilibrium analyses with the six PCR-based polymorphisms and their flanking markers demonstrated disequilibrium between all tested loci. Genotypes of the four diallelic polymorphisms (702, 2034, 10647, and DV1.9) were also evaluated in cohorts from the CEPH, African, and Japanese populations. The CEPH and Japanese cohorts showed similar heterozygosities and linkage-disequilibrium coefficients. The African cohort showed a higher degree of heterozygosity and lower linkage-disequilibrium values, compared with the CEPH and Japanese cohorts.

Indexed as

Genes, Neurofibromatosis 1Linkage DisequilibriumPolymorphism, GeneticAllelesBase SequenceCohort StudiesDNA, ComplementaryDNA PrimersExonsGene FrequencyGenetic MarkersGenotypeHeterozygoteHumansIntronsMolecular Sequence DataDNA, ComplementaryDNA PrimersGenetic Markers

Identifiers

PMID8659521
PMCPMC1915086
OpenAlexW1507505238

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.