Balbín M, Abrahamson M, Gustafson L, Nilsson K, Brun A, Grubb A
Department of Clinical Chemistry, University Hospital, Lund, Sweden.
Hum Genet. 1992 Jul;89(5):580-2. doi: 10.1007/BF00219191.
A novel mutation, a C to T transition at base pair 2124 in exon 17 of the amyloid beta-protein precursor (APP) gene, has been identified by direct sequencing of amplified DNA from two Alzheimer's disease (AD) patients. A simple oligonucleotide-hybridization procedure was developed to allow population studies of this DNA variation. The mutation, which is silent at the protein level, was present in 2 out of 12 investigated AD patients, in 1 out of 60 non-AD patients and in 1 out of 30 healthy individuals. The mutation can be used as a new marker for linkage studies involving the APP gene, although more comprehensive population studies are required to determine the status of the mutation as a possible risk factor for the development of AD.
通过对两名阿尔茨海默病（AD）患者扩增DNA的直接测序，已鉴定出一种新的突变，即淀粉样β蛋白前体（APP）基因第17外显子中第2124个碱基对处的C到T转换。开发了一种简单的寡核苷酸杂交程序，以进行该DNA变异的群体研究。该突变在蛋白质水平上是沉默的，在12名接受调查的AD患者中有2名、60名非AD患者中有1名以及30名健康个体中有1名存在该突变。该突变可作为涉及APP基因连锁研究的新标记，不过需要更全面的群体研究来确定该突变作为AD发病可能风险因素的状况。
