2026-03-13T13:52:18Z https://kumadai.repo.nii.ac.jp/oai

oai:kumadai.repo.nii.ac.jp:00030235 2026-01-19T07:03:48Z 343:347:348:349

Novel intronic polymorphisms in the presenilin-2 gene and a case-control association study of Alzheimer's disease プレセニリン-2遺伝子における新たなイントロン多型とアルツハイマー病の患者-対象調査について プレセニリン 2 イデンシ ニ オケル アラタ ナ イントロン タケイ ト アルツハイマービョウ ノ カンジャ タイショウ チョウサ ニ ツイテ 本田, 雅博 ホンダ, マサヒロ Honda, Masahiro 377.5 Alzheimer's disease presenilin-2 gene polymorphism 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. http://onlinelibrary.wiley.com/doi/10.1046/j.1440-1819.1999.00609.x/full 熊本大学 1999-03-25 eng thesis AM http://hdl.handle.net/2298/38301 https://kumadai.repo.nii.ac.jp/records/30235 10.1046/j.1440-1819.1999.00609.x Psychiatry and Clinical Neurosciences 53 5 579 585 甲第1235号 博士（医学） 1999-03-25 17401 熊本大学 https://kumadai.repo.nii.ac.jp/record/30235/files/22_1235.pdf application/pdf 114.6 kB 2020-03-03