Literature DB >> 8365666

Close linkage of the gene for Werner's syndrome to ANK1 and D8S87 on the short arm of chromosome 8.

J Nakura1, T Miki, K Nagano, K Kihara, L Ye, K Kamino, Y Fujiwara, S Yoshida, S Murano, K Fukuchi.   

Abstract

Werner's syndrome (WRN) is a rare autosomal recessive disorder characterized by the appearance of features of premature aging in a young adult. Skin fibroblasts from WRN patient demonstrate slow growth, reduced life span in vitro and mutator phenotype. The genetic defect in WRN is unknown. We have studied 23 WRN patients mainly from first or second cousin marriage and have applied homozygosity mapping to search for the WRN locus. A peak lod score of 5.58 at a recombination fraction of 0.03 was obtained with D8S87. We confirmed that the WRN locus was located on the short arm of chromosome 8, 8p11.2-p12.

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Year:  1993        PMID: 8365666     DOI: 10.1159/000213560

Source DB:  PubMed          Journal:  Gerontology        ISSN: 0304-324X            Impact factor:   5.140


  1 in total

1.  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.

Authors:  K A Goddard; C E Yu; J Oshima; T Miki; J Nakura; C Piussan; G M Martin; G D Schellenberg; E M Wijsman
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

  1 in total

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