Kamino K, Sato S, Sakaki Y, Yoshiiwa A, Nishiwaki Y, Takeda M, Tanabe H, Nishimura T, Ii K, St George-Hyslop P H, Miki T, Ogihara T
Department of Geriatric Medicine, Osaka University Medical School, Japan.
Neurosci Lett. 1996 Apr 26;208(3):195-8. doi: 10.1016/0304-3940(96)12587-8.
Presenilin-1 (PS-1) gene of three Japanese pedigrees with early-onset familial Alzheimer's disease (FAD) disclosed two novel missense mutations resulting in Val96Phe and Ile213Thr, and one mutation resulting in His163Arg. The mean age at onset in a family with His163Arg mutation was similar to those reported in other families with His163Arg. Our results suggested the existence of a variety of PS-1 mutations, and that early-onset FAD with PS-1 mutations is highly penetrant and is only rarely subject to modulation by genetic or environmental modifying factors.
对三个早发性家族性阿尔茨海默病（FAD）日本家系的早老素-1（PS-1）基因进行研究，发现了两个导致Val96Phe和Ile213Thr的新错义突变，以及一个导致His163Arg的突变。携带His163Arg突变的家系中的平均发病年龄与其他携带His163Arg突变的家系报告的发病年龄相似。我们的结果表明存在多种PS-1突变，并且携带PS-1突变的早发性FAD具有高度的外显率，很少受到遗传或环境修饰因素的调节。
