Forsell C, Froelich S, Axelman K, Vestling M, Cowburn R F, Lilius L, Johnston J A, Engvall B, Johansson K, Dahlkild A, Ingelson M, St George-Hyslop P H, Lannfelt L
Karolinska Institute, Department of Geriatric Medicine, Huddinge University Hospital, Novum, Sweden.
Neurosci Lett. 1997 Sep 26;234(1):3-6. doi: 10.1016/s0304-3940(97)00603-4.
Several mutations causing early-onset familial Alzheimer's disease (AD) have been detected in the presenilin 1 (PS-1) gene. Pathogenic mutations have also been described in an homologous gene, presenilin 2 (PS-2). In order to screen for mutations in these genes, cDNA samples from early-onset AD cases were analysed, using single strand conformation polymorphism (SSCP) and direct cDNA sequencing. Two missense mutations in the PS-1 gene were detected, a previously unidentified amino acid substitution Leu262Phe and an earlier reported amino acid substitution Glu318Gly. No disease-related mutations were found in the PS-2 gene.
在早老素1（PS-1）基因中已检测到几种导致早发性家族性阿尔茨海默病（AD）的突变。在同源基因早老素2（PS-2）中也描述了致病突变。为了筛查这些基因中的突变，使用单链构象多态性（SSCP）和直接cDNA测序分析了早发性AD病例的cDNA样本。在PS-1基因中检测到两个错义突变，一个是先前未鉴定的氨基酸取代Leu262Phe，另一个是先前报道的氨基酸取代Glu318Gly。在PS-2基因中未发现与疾病相关的突变。
