GENETIC-LINKAGE OF WERNER SYNDROME TO 5 MARKERS ON CHROMOSOME-8
GENETIC-LINKAGE OF WERNER SYNDROME TO 5 MARKERS ON CHROMOSOME-8
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DOI：
10.1038/355735a0
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发表时间：
1992-02-20
期刊：
影响因子：
64.8
通讯作者：
DRAYNA, D
中科院分区：
文献类型：
--
作者：
GOTO, M;RUBENSTEIN, M;DRAYNA, D
WERNER综合征（WS）是一种罕见的常染色体隐性遗传疾病，其中受影响的个体表现出过早衰老的症状1-3。WS和正常衰老之间的大量表型重叠表明这两种情况可能具有共同的发病机制3-5。WS突变具有多效性效应，患者及其细胞与正常人相比显示出许多差异5。尽管对这种疾病的临床和生化特征进行了广泛的研究，但主要的遗传缺陷仍然未知。我们已经进行了遗传连锁研究，以确定原发性缺陷的位点6。在这里，我们报告密切的遗传连锁的WS突变的8号染色体上的一组标记。
WERNER'S syndrome (WS) is a rare autosomal recessive disease in which the affected individuals display symptoms of premature ageing 1-3. The substantial phenotypic overlap between WS and normal ageing indicates that these two conditions may have pathogenetic mechanisms in common 3-5. The WS mutation has pleiotropic effects, and patients and their cells show many differences compared with normals 5. 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 6. Here we report close genetic linkage of the WS mutation to a group of markers on chromosome 8.