Evidence map›Paper›PMID 8651307›Full record

ArticleAmerican journal of human genetics1996

Toward localization of the Werner syndrome gene by linkage disequilibrium and ancestral haplotyping: lessons learned from analysis of 35 chromosome 8p11.1-21.1 markers.

K A Goddard, C E Yu, J Oshima, T Miki, J Nakura, C Piussan, G M Martin, G D Schellenberg, E M Wijsman

Abstract readComparative Study
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 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

14 citing papers in PubMed.

  1. Article
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  7. Fine-scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population.Proceedings of the National Academy of Sciences of the United States of America · 2001
    Article
  8. The trimmed-haplotype test for linkage disequilibrium.American journal of human genetics · 2000
    Article
  9. Article
  10. Article
  11. Article
  12. 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

9 authors.

K A GoddardDepartment of Biostatistics, University of Washington, Seattle 98195-7720, USA.
C E Yu
J Oshima
T Miki
J Nakura
C Piussan
G M Martin
G D Schellenberg
E M Wijsman

Funding

CLONING OF THE CHROMOSOME 8 WERNERS SYNDROME GENER01AG012019 · NIA · UNIVERSITY OF WASHINGTON · PI SCHELLENBERG, GERARD DAVID · 1994 to 1998
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HOMOZYGOSITY MAPPING OF THE WERNER SYNDROME LOCUSR37AG008303 · NIA · UNIVERSITY OF WASHINGTON · PI MARTIN, GEORGE M. · 1989 to 1997
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NIA NIH HHS AG08303NIA NIH HHS AG12019
6 · The paper itself

Abstract

Werner syndrome (WS) is an autosomal recessive disorder characterized by premature onset of a number of age-related diseases. The gene for WS, WRN, has been mapped to the 8p 11.1-21.1 region with further localization through linkage disequilibrium mapping. Here we present the results of linkage disequilibrium and ancestral haplotype analyses of 35 markers to further refine the location of WRN. We identified an interval in this region in which 14 of 18 markers tested show significant evidence of linkage disequilibrium in at least one of the two populations tested. Analysis of extended and partial haplotypes covering 21 of the markers studied supports the existence of both obligate and probable ancestral recombinant events which localize WRN almost certainly to the interval between D8S2196 and D8S2186, and most likely to the narrower interval between D8S2168 and D8S2186. These haplotype analyses also suggest that there are multiple WRN mutations in each of the two populations under study. We also present a comparison of approaches to performing disequilibrium tests with multiallelic markers, and show that some commonly used approximations for such tests perform poorly in comparison to exact probability tests. Finally, we discuss some of the difficulties introduced by the high mutation rate at microsatellite markers which influence our ability to use ancestral haplotype analysis to localize disease genes.

Indexed as

Chromosomes, Human, Pair 8HaplotypesLinkage DisequilibriumAge of OnsetAsian PeopleChromosome MappingConsanguinityFemaleGene FrequencyGenetic MarkersHumansJapanMaleMarkov ChainsMonte Carlo MethodPedigreeGenetic Markers

Identifiers

PMID8651307
PMCPMC1915073

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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.