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Novel intronic polymorphisms in the presenilin‐2 gene and a case‐control association study of Alzheimer’s disease
Author(s) -
Honda Masahiro,
Kaname Tadashi,
IgataYi Ruriko,
Igata Tomohide,
Hitoshi Yasuyuki,
Ogomori Koji,
Miyakawa Taihei,
Yamamura KenIchi
Publication year - 1999
Publication title -
psychiatry and clinical neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.609
H-Index - 74
eISSN - 1440-1819
pISSN - 1323-1316
DOI - 10.1046/j.1440-1819.1999.00609.x
Subject(s) - exon , genetics , intron , presenilin , biology , gene , allele , senile plaques , polymorphism (computer science) , alzheimer's disease , disease , medicine , pathology
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.