Evidence map›Paper›PMID 2531224›Full record

ArticleJournal of medical genetics1989

Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.

J Theilmann, S Kanani, R Shiang, C Robbins, O Quarrell, M Huggins, A Hedrick, B Weber, C Collins, J J Wasmuth

Open access · bronzeAbstract read
In one paragraph

Article in Journal of medical genetics, 1989. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed
5.6field-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

31 citing papers in PubMed, 77 citations in OpenAlex.

  1. Telomere shortening and Alzheimer's disease.Neuromolecular medicine · 2013
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  16. Expected behavior of conditional linkage disequilibrium.American journal of human genetics · 1992
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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

10 authors at 2 institutions in 2 countries.

J TheilmannDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
S Kanani
R Shiang
C Robbins
O Quarrell
M Huggins
A Hedrick
B Weber
C Collins
J J Wasmuth
University of British Columbia · CAUniversity of Iowa · US

Funding

DETAILED MAPPING AND RECOMBINATION OF CHROMOSOME FOURR01GM040864 · NIGMS · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 1988 to 1989
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PREDOCTORAL TRAINING PROGRAM IN GENETICST32GM007091 · NIGMS · UNIVERSITY OF IOWA · PI GUSSIN, GARY N · 1985 to 1989
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NIGMS NIH HHS GM07091NIGMS NIH HHS GM40864
6 · The paper itself

Abstract

Analysis of many families with linked DNA markers has provided support for the Huntington's disease (HD) gene being close to the telomere on the short arm of chromosome 4. However, analysis of recombination events in particular families has provided conflicting results about the precise location of the HD gene relative to these closely linked DNA markers. Here we report an investigation of linkage disequilibrium between six DNA markers and the HD gene in 75 separate families of varied ancestry. We show significant non-random association between alleles detected at D4S95 and D4S98 and the mutant gene. These data suggest that it may be possible to construct high and low risk haplotypes, which may be helpful in DNA analysis and genetic counselling for HD, and represent independent evidence that the gene for HD is centromeric to more distally located DNA markers such as D4S90. This information may be helpful in defining a strategy to clone the gene for HD based on its location in the human genome.

Indexed as

AllelesRecombination, GeneticDNA ProbesEuropeFemaleGene FrequencyHaplotypesHumansHuntington DiseaseLinkage DisequilibriumMaleNorth AmericaPedigreePolymorphism, GeneticRisk FactorsDNA Probes

Identifiers

PMID2531224
PMCPMC1015737
OpenAlexW2149818071

What OpenQuestion holds

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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.