A novel mutation in the β-protein coding region of the amyloid β-protein precursor (APP) gene

Summary, in English

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.

• Author: Milagros Balbin; Magnus Abrahamson; Lars Gustafson; Karin Nilsson; Arne Brun; Anders Grubb
• Department/s: Division of Clinical Chemistry and Pharmacology; Psychiatry (Lund); Tumor microenvironment
• Publishing year: 1992
• Language: English
• Pages: 580-582
• Publication/Series: Human Genetics
• Volume: 89
• Issue: 5
• Links: http://dx.doi.org/10.1007/BF00219191
• Document type: Journal article
• Publisher: Springer
• Topic: Medical Genetics
• Status: Published
• ISBN/ISSN/Other: ISSN: 1432-1203