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
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.