ISSN:
1435-1463
Keywords:
Familial Alzheimer's disease
;
amyloid precursor protein
;
mutation
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary Mutations in the β-amyloid precursor protein gene on chromosome 21 were shown to cause a small proportion of Alzheimer's disease. We studied the occurrence of the point mutations in exon 17 of the β-amyloid precursor protein gene in a sample of Finnish familial Alzheimer patients and nondemented controls using polymerase chain reaction and a single strand conformation polymorphism technique. In addition, mutations in familial Alzheimer's disease patients were studied by sequencing the amplified products. Interestingly, two probable polymerase chain reaction errors were detected in codons 717 and 693 of the exon 17. However, 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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02253439
Permalink