Ramirez-Dueñas M G, Rogaeva E A, Leal C A, Lin C, Ramirez-Casillas G A, Hernandez-Romo J A, St George-Hyslop P H, Cantu J M
Departamento de Fisiología, Universidad de Guadalajara, Jalisco, Mexico.
Ann Genet. 1998;41(3):149-53.
A search for mutations in exons 6, 7, 9 and 12 of the PS1 gene in four Mexican families with Early-Onset (36-40 years) Alzheimer Disease yielded the discovery in one family of a T-->C mismatch in exon 7 which correspond to nucleotide 760 of cDNA, leading to a Leu171Pro mutation. The pedigree analysis and the literature data strongly suggest an etiopathogenic relationship of the mutation with the disorder.
对四个早发性（36 - 40岁）阿尔茨海默病墨西哥家庭的PS1基因外显子6、7、9和12进行突变搜索，结果在一个家庭中发现外显子7存在T→C错配，该错配对应于cDNA的第760个核苷酸，导致Leu171Pro突变。系谱分析和文献数据强烈表明该突变与疾病之间存在病因学关系。
