Forsell C, Lannfelt L
Karolinska Institute, Department of Clinical Neuroscience, Huddinge University Hospital, Sweden.
Neurosci Lett. 1995 Jan 23;184(2):90-3. doi: 10.1016/0304-3940(94)11176-j.
In some families with early-onset Alzheimer's disease (AD) pathogenic mutations have been found in exons 16 and 17 of the amyloid precursor protein (APP) gene. One case of schizophrenia has been described with a mutation at codon 713. We have developed a single strand conformation polymorphism (SSCP) method that detects mutations in these exons and investigated 98 AD cases and 56 elderly healthy controls. An earlier reported mutation at codon 713 in a healthy control and a previously undescribed polymorphism at codon 705 in a sporadic case of AD were found. These mutations are probably not related to disease pathogenesis.
在一些早发性阿尔茨海默病（AD）家族中，已在淀粉样前体蛋白（APP）基因的第16和17外显子中发现致病突变。曾有一例精神分裂症患者被描述在密码子713处发生突变。我们开发了一种单链构象多态性（SSCP）方法来检测这些外显子中的突变，并对98例AD患者和56名老年健康对照进行了研究。在一名健康对照中发现了先前报道的密码子713处的突变，在一例散发性AD病例中发现了密码子705处一个先前未描述的多态性。这些突变可能与疾病发病机制无关。
