Adroer R, Chartier-Harlin M C, Crawford F, Oliva R
Molecular Genetics Research Group, Faculty of Medicine, University of Barcelona, Spain.
Neurosci Lett. 1992 Jul 6;141(1):69-71. doi: 10.1016/0304-3940(92)90336-6.
Direct sequencing of exon 17 of the amyloid precursor protein (APP) gene led to the identification of 3 different types of APP717 pathogenic mutations associated with familial Alzheimer's disease (FAD). The low frequency of these mutations results in having to screen many samples in order to identify new families affected by them, which is laborious and time consuming. Thus, in order to help the identification of these mutations in additional countries and to search for new mutations in APP, perhaps in other exons also causing FAD, we have optimized the procedure and reduced the time necessary for sample preparation from 11 h to 3 1/2 h.
对淀粉样前体蛋白（APP）基因第17外显子进行直接测序，发现了3种与家族性阿尔茨海默病（FAD）相关的不同类型的APP717致病突变。这些突变的低频性导致必须筛查大量样本才能识别受其影响的新家族，这既费力又耗时。因此，为了帮助在其他国家识别这些突变，并寻找APP中的新突变，或许在其他也会导致FAD的外显子中寻找，我们优化了程序，将样本制备所需时间从11小时缩短至3个半小时。
