Genetic linkage of Werner's syndrome to five markers on chromosome 8.
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.
Goto
M
M
Department of Rheumatology, Tokyo Metropolitan Otsuka Hospital, Japan.
Rubenstein
M
M
Weber
J
J
Woods
K
K
Drayna
D
D
D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007564:Japan; D008126:Lod Score; D014898:Werner Syndrome / Q000235:genetics*
D005819:Genetic Markers