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PMID: 1741060 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Genetic linkage of Werner's syndrome to five markers on chromosome 8.

Nature ·Vol. 355 ·No. 6362 ·1992-02-20 ·Pages 735-8

Goto M, Rubenstein M, Weber J, Woods K, Drayna D

Abstract

Werner's syndrome (WS) is a rare autosomal recessive disease in which the affected individuals display symptoms of premature ageing. The substantial phenotypic overlap between WS and normal ageing indicates that these two conditions may have pathogenetic mechanisms in common. The WS mutation has pleiotropic effects, and patients and their cells show many differences compared with normals. Despite extensive study of the clinical and biochemical features of this disorder, the primary genetic defect remains unknown. We have undertaken a genetic linkage study in an effort to identify the locus of the primary defect. Here we report close genetic linkage of the WS mutation to a group of markers on chromosome 8.

MeSH Terms
Chromosome Mapping Chromosomes, Human, Pair 8 Genetic Linkage Genetic Markers Genotype Humans Japan Lod Score Werner Syndrome/genetics
Chemicals
Genetic Markers
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Goto M
Department of Rheumatology, Tokyo Metropolitan Otsuka Hospital, Japan.
Rubenstein M
Weber J
Woods K
Drayna D
Article Info
Journal
Nature
Abbr.
Nature
ISSN
0028-0836
Published
1992-02-20
Pages
735-8
Language
English
Region
England
NLM ID
0410462
Subset
IM
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