Haan J, Van Broeckhoven C, van Duijn C M, Voorhoeve E, van Harskamp F, van Swieten J C, Maat-Schieman M L, Roos R A, Bakker E
Department of Neurology, University Hospital Leiden, The Netherlands.
Ann Neurol. 1994 Sep;36(3):434-7. doi: 10.1002/ana.410360315.
In 31 symptomatic and 5 asymptomatic carriers of the amyloid precursor protein (APP) gene codon 693 mutation, 10 family members without mutation, and 5 carriers of the APP gene codon 692 mutation (3 with early-onset Alzheimer dementia, 2 with cerebral hemorrhage), a high frequency of the apolipoprotein E epsilon 4 allele was found. Age at onset, age at death, occurrence of dementia, and number of strokes did not differ between APP gene mutation carriers with or without epsilon 4 allele, showing that the clinical expression of these APP mutations is not influenced by the apolipoprotein E gene.
在31名有症状的和5名无症状的淀粉样前体蛋白（APP）基因密码子693突变携带者、10名无突变的家庭成员以及5名APP基因密码子692突变携带者（3名早发性阿尔茨海默病痴呆患者，2名脑出血患者）中，发现载脂蛋白Eε4等位基因的频率很高。有或没有ε4等位基因的APP基因突变携带者之间的发病年龄、死亡年龄、痴呆症的发生情况以及中风次数并无差异，这表明这些APP突变的临床表型不受载脂蛋白E基因的影响。
