Honda M, Kaname T, Igata-Yi R, Igata T, Hitoshi Y, Ogomori K, Miyakawa T, Yamamura K I
Department of Developmental Genetics, Institute of Molecular Embryology and Genetics, Kumamoto University School of Medicine, Japan.
Psychiatry Clin Neurosci. 1999 Oct;53(5):579-85. doi: 10.1046/j.1440-1819.1999.00609.x.
Several alleles of introns or untranslated regions in the presenilin-1 (PS-1) and presenilin-2 (PS-2) genes have been reported to behave as risk factors for senile Alzheimer's disease (AD). On the other hand, mutations in the three presenile AD genes also have been identified in a small number of sporadic presenile AD and senile AD cases. The present study evaluated the genetic contributions of PS-2 exons and introns to 56 senile and 18 Japanese cases of presenile AD using polymerase chain reaction single-strand conformation polymorphism analysis. In the PS-2 gene, one exonic polymorphic site without amino acid substitution, 9 intronic polymorphic sites, and 2 intronic variant sites were detected. However, in all cases, amino acid substitutions in exons between 4 and 12 of the PS-2 gene were not observed. The risk factors of senile and presenile AD were evaluated using a population-based study of restriction cleavages between patients and controls in introns 3, 4, 10 and 11. Regarding PS-2, there was no association between AD and intronic polymorphisms.
据报道，早老素1（PS-1）和早老素2（PS-2）基因内含子或非翻译区的几个等位基因表现为老年性阿尔茨海默病（AD）的危险因素。另一方面，在少数散发性早老性AD和老年性AD病例中也发现了三种早老性AD基因的突变。本研究采用聚合酶链反应单链构象多态性分析，评估了PS-2外显子和内含子对56例老年性AD和18例日本早老性AD病例的遗传贡献。在PS-2基因中，检测到1个无氨基酸替代的外显子多态性位点、9个内含子多态性位点和2个内含子变异位点。然而，在所有病例中，均未观察到PS-2基因4至12外显子的氨基酸替代。通过对患者和对照人群中内含子3、4、10和11的限制性酶切进行基于人群的研究，评估老年性和早老性AD的危险因素。关于PS-2，AD与内含子多态性之间无关联。
