盛行的早发性痴呆患者的致病突变检测到四种不同基因的序列分析。
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Finckh U, Muller-Thomsen T,曼U,艾格斯C, Marksteiner J,我的W, Binetti G, Alberici,典当C,尼奇RM,加一个
盛行的早发性痴呆患者的致病突变检测到四种不同基因的序列分析。
J哼麝猫。2000年1月,66 (1):110 - 7。
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10631141 (在PubMed]
- 文摘
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早发性痴呆的临床鉴别诊断包括家族性阿尔茨海默病(EOD)(时尚)和遗传朊病毒疾病。在这两种疾病实体,后期大脑组织病理学检查明确诊断是至关重要的。突变基因编码presenilins (PS1和PS2)和淀粉样前体蛋白(APP)与时尚相关联,而朊病毒蛋白质(PrP)基因的突变与朊病毒疾病相关联。调查的比例爆炸品处理由已知的基因,我们预期(即。这四个基因突变筛选,临死前的)测序基因组PCR产品爆炸品处理患者在60岁之前。痴呆家族史是积极的(PFH)在16个病人,负(NFH) 17个病人,和未知的(能)3例。在12个病人,我们发现5小说突变(PS1, F105L;在PS2, T122P M239I;PrP, Q160X和T188K)和五个之前报道的突变(在应用程序中,在三个病人最有可能无关,V717I;PS1, A79V M139V; and in PrP, P102L and T183A) that are all considered to be disease causing. Of these 12 patients, 9 had PFH. This indicates a detection rate of 56% (9/16) in patients with PFH. We found two mutations (APP V717I) in two of the three UFH patients, and only one mutation (PrP T188K) in 1 of the 17 patients with NFH. We conclude that because of the lack of specific antemortem diagnostic markers for FAD and hereditary prion disease, all four genes should be included in a molecular diagnostic program in patients with EOD who had PFH.