Goto M, Rubenstein M, Weber J, Woods K, Drayna D
Department of Rheumatology, Tokyo Metropolitan Otsuka Hospital, Japan.
Nature. 1992 Feb 20;355(6362):735-8. doi: 10.1038/355735a0.
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.
沃纳综合征(WS)是一种罕见的常染色体隐性疾病,患者会出现早衰症状。WS与正常衰老之间存在显著的表型重叠,这表明这两种情况可能具有共同的致病机制。WS突变具有多效性,与正常人相比,患者及其细胞表现出许多差异。尽管对该疾病的临床和生化特征进行了广泛研究,但主要的基因缺陷仍然未知。我们进行了一项基因连锁研究,以确定主要缺陷的基因座。在此,我们报告WS突变与8号染色体上一组标记紧密连锁。