Genetic study of Sardinian patients with Alzheimer's disease
作者： Paola Piscopo , Antonella Manfredi , Lorenzo Malvezzi-Campeggi , Alessio Crestini , Ornella Spadoni
DOI: 10.1016/J.NEULET.2005.12.063
关键词:
摘要: Abstract We describe the genetic analysis of an Alzheimer's disease (AD) sample derived from a genetically isolated population. Genetic assessment included genes involved in AD, such as for amyloid precursor protein (APP), presenilin 1 (PSEN1) and 2 (PSEN2). also assessed some proteins that constitute γ-secretase complex: nicastrin (NCSTN), enhancer-2 (PEN2), addition to AD risk factor apolipoprotein E (APOE). Using polymerase chain reaction single strand conformational polymorphism method, screens APP, PSEN1 PSEN2 revealed one mutation PSEN1. Furthermore, we found intronic +17G > C PEN2 which, homozygous form, was greater early onset (EOAD) compared controls, haplotype NCSTN gene which linked EOAD familial (FAD). Finally, genotyping APOE confirmed ɛ4 allele could be particular FAD subjects. In conclusion, these results show existence Sardinian peculiarities, essential studies regarding inherited multifactorial disorders, AD.
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