TESTING FOR MUTATIONS IN EXON 17 OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE IN FINNISH ALZHEIMER PATIENTS AND NORMAL SUBJECTS

Citation
O. Heinonen et al., TESTING FOR MUTATIONS IN EXON 17 OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE IN FINNISH ALZHEIMER PATIENTS AND NORMAL SUBJECTS, Journal of neural transmission. Parkinson's disease and dementia section, 7(3), 1994, pp. 211-215
Citations number
21
Categorie Soggetti
Clinical Neurology
ISSN journal
09363076
Volume
7
Issue
3
Year of publication
1994
Pages
211 - 215
Database
ISI
SICI code
0936-3076(1994)7:3<211:TFMIE1>2.0.ZU;2-B
Abstract
Mutations in the beta-amyloid precursor protein gene on chromosome 21 were shown to cause a small proportion of Alzheimer's disease. We stud ied the occurrence of the point mutations in exon 17 of the beta-amylo id precursor protein gene in a sample of Finnish familial Alzheimer pa tients and nondemented controls using polymerase chain reaction and a single strand conformation polymorphism technique. In addition, mutati ons in familial Alzheimer's disease patients were studied by sequencin g the amplified products. Interestingly, two probable polymerase chain reaction errors were detected in codons 717 and 693 of the exon 17. H owever, no mutations in the exon 17 were confirmed adding the study to the body of literature that mutations in the exon 17 are a rare cause of familial Alzheimer's disease.