دورية أكاديمية
F175S Change and a Novel Polymorphism in Presenilin-1 Gene in Late-Onset Familial Alzheimer’s Disease
| العنوان: | F175S Change and a Novel Polymorphism in Presenilin-1 Gene in Late-Onset Familial Alzheimer’s Disease |
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| المؤلفون: | Colacicco, A.M., Panza, F., Basile, A.M., Solfrizzi, V., Capurso, C., D’Introno, A., Torres, F., Capurso, S., Cozza, S., Flora, R., Capurso, A. |
| المصدر: | European Neurology ; volume 47, issue 4, page 209-213 ; ISSN 0014-3022 1421-9913 |
| بيانات النشر: | S. Karger AG |
| سنة النشر: | 2002 |
| الوصف: | We analyzed at the molecular level with presenilin-1 (PS-1) and apolipoprotein E (apoE) genotyping the affected subjects and asymptomatic relatives of an Italian family with several members affected by late-onset familial Alzheimer’s disease (AD). The screen for PS-1 gene mutations revealed a novel missense substitution phenylalanine 175 to serine in 1 of the affected individuals and 2 asymptomatic sons of the patient. This change was not found in other relatives of this family, as well as in 60 individuals with sporadic late-onset AD and 40 normal controls. Furthermore, a GG/TT substitution in the 3′ end of intron 6 at the boundary with exon 7 was found in all relatives of the second and third generations of this family. All the affected relatives were female homo- or heterozygotes for apoE Ε4 allele. This study provides evidence that a PS-1 gene missense change does not necessarily associate with early-onset disease, and can occur in single cases affected by late-onset disease. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1159/000057901 |
| الإتاحة: | https://doi.org/10.1159/000057901Test https://www.karger.com/Article/Pdf/57901Test |
| حقوق: | https://www.karger.com/Services/SiteLicensesTest ; https://www.karger.com/Services/SiteLicensesTest |
| رقم الانضمام: | edsbas.4CEEC5BD |
| قاعدة البيانات: | BASE |
| DOI: | 10.1159/000057901 |
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