Nat Genet. 1995 Oct;11(2):219-22. doi: 10.1038/ng1095-219.
Genetic linkage studies place a gene causing early onset familial Alzheimer's disease (FAD) on chromosome 14q24.3 (refs 1-4). Five mutations within the S182 (Presenilin 1: PS-1) gene, which maps to this region, have recently been reported in several early onset FAD kindreds. We have localized the PS-1 gene to a 75 kb region and present the structure of this gene, evidence for alternative splicing and describe six novel mutations in early onset FAD pedigrees all of which alter residues conserved in the STM2 (Presenilin 2: PS-2) gene.
基因连锁研究将一个导致早发性家族性阿尔茨海默病（FAD）的基因定位于染色体14q24.3（参考文献1 - 4）。位于该区域的S182（早老素1：PS - 1）基因内的五个突变最近在几个早发性FAD家系中被报道。我们已将PS - 1基因定位到一个75 kb的区域，并给出了该基因的结构、选择性剪接的证据，并描述了早发性FAD家系中的六个新突变，所有这些突变都改变了STM2（早老素2：PS - 2）基因中保守的残基。
