Mutations in the beta-amyloid precursor protein (APP) gene have been associated with both familial Alzheimer disease (FAD) and with hereditary cerebral haemorrhage. The polymerase chain reaction was used to both amplify and sequence exon 4 of the APP gene from genomic DNA of subjects with FAD and normal control subjects. A novel, rare, conservative DNA sequence variant was discovered at nucleotide 459 of codon 153 (valine) in exon 4 of the APP gene in an affected member of a large FAD pedigree. Segregation studies indicate that this mutation is likely to be non-pathogenic, but must be recognized and discriminated from pathogenic mutations during sequencing studies of the APP gene in patients with FAD.
A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene / G., Vaula; M., Mortilla; Tupler, Rossella; W., Lukiw; R., Tanzi; L., Nee; R., Polinsky; J. F., Foncin; A. C., Bruni; M. P., Montesi; S., Sorbi; P., St George Hyslop. - In: NEUROSCIENCE LETTERS. - ISSN 0304-3940. - STAMPA. - 144:(1992), pp. 46-48.