A FAMILIAL ALZHEIMERS-DISEASE LOCUS ON CHROMOSOME-1
A FAMILIAL ALZHEIMERS-DISEASE LOCUS ON CHROMOSOME-1
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DOI：
10.1126/science.7638621
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发表时间：
1995-08-18
期刊：
影响因子：
56.9
通讯作者：
SCHELLENBERG, GD
中科院分区：
文献类型：
--
作者：
LEVYLAHAD, E;WIJSMAN, EM;SCHELLENBERG, GD
伏尔加德国家族是一个由7个常染色体显性早发性阿尔茨海默病（AD）相关家族组成的群体。21和14号染色体上已知ad相关位点的连锁已被排除。在这些家族中，D1S479与阿尔茨海默病有关联的显著证据，也有与该地区其他标记有关联的积极证据。D1S479的一个112碱基对等位基因在7个家族中有5个与该疾病共分离，这与一个共同的遗传奠基者是一致的。本研究证实在染色体1q31-42上存在AD位点。
The Volga German kindreds are a group of seven related families with autosomal dominant early-onset Alzheimer's disease (AD). Linkage to known AD-related loci on chromosomes 21 and 14 has been excluded. Significant evidence for linkage to AD in these families was obtained with D1S479 and there was also positive evidence for linkage with other markers in the region. A 112-base pair allele of D1S479 co-segregated with the disease in five of seven families, which is consistent with a common genetic founder. This study demonstrates the presence of an AD locus on chromosome 1q31-42.