THE GENETIC-DEFECT CAUSING FAMILIAL ALZHEIMERS-DISEASE MAPS ON CHROMOSOME-21
THE GENETIC-DEFECT CAUSING FAMILIAL ALZHEIMERS-DISEASE MAPS ON CHROMOSOME-21
复制标题
DOI：
10.1126/science.2880399
复制
发表时间：
1987-02-20
期刊：
影响因子：
56.9
通讯作者：
GUSELLA, JF
中科院分区：
文献类型：
--
作者：
STGEORGEHYSLOP, PH;TANZI, RE;GUSELLA, JF
阿尔茨海默病是老年人发病和死亡的主要原因。已经描述了几个家族，其中阿尔茨海默病是由常染色体显性基因缺陷引起的。该缺陷基因的染色体定位已通过使用与21号染色体上的DNA标记的遗传连锁而被发现。21号染色体上的定位为唐氏综合征中阿尔茨海默病样病理的发生提供了解释。在这个位点的基因的分离和表征可能会产生新的见解的性质的缺陷，导致家族性阿尔茨海默氏病，并可能，到所有形式的阿尔茨海默氏病的病因。
Alzheimer's disease is a leading cause of morbidity and mortality among the elderly. Several families have been described in which Alzheimer's disease is caused by an autosomal dominant gene defect. The chromosomal location of this defective gene has been discovered by using genetic linkage to DNA markers on chromosome 21. The localization on chromosome 21 provides an explanation for the occurrence of Alzheimer's disease-like pathology in Down syndrome. Isolation and characterization of the gene at this locus may yield new insights into the nature of the defect causing familial Alzheimer's disease and possibly, into the etiology of all forms of Alzheimer's disease.