A novel mutation in the beta-protein coding region of the amyloid beta-protein precursor (APP) gene.
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.
Balbín
M
M
Department of Clinical Chemistry, University Hospital, Lund, Sweden.
Abrahamson
M
M
Gustafson
L
L
Nilsson
K
K
Brun
A
A
Grubb
A
A
D000544:Alzheimer Disease / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001483:Base Sequence; D002869:Chromosome Aberrations / Q000235:genetics; D003062:Codon / Q000235:genetics; D005796:Genes / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction
D016564:Amyloid beta-Protein Precursor; D003062:Codon; D005819:Genetic Markers