Mutational screening of APP gene in patients with early-onset Alzheimer disease utilizing mismatched PCR-RFLP
| ISSN: | 0009-9163 |
|---|---|
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ce36addeefae96dab9c4d1e29e8b0be https://pubmed.ncbi.nlm.nih.gov/8737975 |
| Rights: | CLOSED |
| Přírůstkové číslo: | edsair.doi.dedup.....6ce36addeefae96dab9c4d1e29e8b0be |
| Autor: | Yumiko Nishiwaki, Tsuyoshi Nishimura, Keiko Nagano, Aoi Yoshiiwa, Hirotaka Tanabe, Masatoshi Takeda, Toshio Ogihara, Hideki Yamamoto, Hiroshi Yoneda, Toshiaki Sakai, Kouzin Kamino, Tetsuro Miki, Masaki Imagawa, Yasuhiro Nonomura, Toshiko Kobayashi |
| Rok vydání: | 1996 |
| Předmět: |
Adult
Molecular Sequence Data medicine.disease_cause Polymerase Chain Reaction Exon Amyloid beta-Protein Precursor Japan Polymorphism (computer science) Alzheimer Disease mental disorders Genetics Amyloid precursor protein medicine Missense mutation Humans Gene Genetics (clinical) DNA Primers Mutation biology Base Sequence Exons Middle Aged medicine.disease biology.protein Alzheimer's disease Restriction fragment length polymorphism Polymorphism Restriction Fragment Length |
| Zdroj: | Clinical genetics. 49(3) |
| ISSN: | 0009-9163 |
| Popis: | To elucidate the frequency of mutations of the beta/A4 amyloid protein precursor (APP) gene in early-onset Alzheimer disease, we designed a mismatched PCR-RFLP that can identify all kinds of missense mutations at codon 717 in addition to the seven kinds of known mutations at exon 17. When we screened mutations at exon 17 utilizing this method and the double missense mutations at exon 16 of the APP gene by PCR-RFLP, no cases revealed mutations of the APP gene among 13 familial and 54 sporadic cases, except one family (OS-1) that had previously been reported and used as a positive control of APP717(Val-->Ile). Our results support the hypothesis that mutations in the APP gene are not major causes in early-onset Alzheimer disease. |
| Databáze: | OpenAIRE |
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