Hendriks L, van Duijn C M, Cras P, Cruts M, Van Hul W, van Harskamp F, Warren A, McInnis M G, Antonarakis S E, Martin J J
Department of Biochemistry, Born Bunge Foundation, University of Antwerp (UIA), Belgium.
Nat Genet. 1992 Jun;1(3):218-21. doi: 10.1038/ng0692-218.
Several families with an early-onset form of familial Alzheimer's disease have been found to harbour mutations at a specific codon (717) of the gene for the beta-amyloid precursor protein (APP) on chromosome 21. We now report, a novel base mutation in the same exon of the APP gene which co-segregates in one family with presenile dementia and cerebral haemorrhage due to cerebral amyloid angiopathy. The mutation results in the substitution of alanine into glycine at codon 692. These results suggest that the clinically distinct entities, presenile dementia and cerebral amyloid angiopathy, can be caused by the same mutation in the APP gene.
已发现几个患有早发型家族性阿尔茨海默病的家族，其21号染色体上β-淀粉样前体蛋白（APP）基因的特定密码子（717）存在突变。我们现在报告，在APP基因的同一外显子中发现了一种新的碱基突变，该突变在一个家族中与早老性痴呆和脑淀粉样血管病所致脑出血共分离。该突变导致密码子692处的丙氨酸被甘氨酸取代。这些结果表明，临床上不同的早老性痴呆和脑淀粉样血管病可能由APP基因中的同一突变引起。
