Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14

• Published in: Nature genetics Vol. 2; no. 4; pp. 330 - 334
• Main Authors: Mortilla, M, Farrer, L, Liang, Y, Duara, R, St George-Hyslop, P, Sorbi, S, Vaula, G, Rogaev, E, Cantu, J-M, Bergamini, L, Macciardi, F, Rogaeva, E, Pericak-Vance, M, Schlumpf, K, Tsuda, T, Haines, J, Tanzi, R, Nee, L, Rainero, I, Alexandrova, N, Kennedy, J, Pollen, D, Amaducci, L, Polinsky, R, Bruni, A, Roses, A, Lukiw, W, Crapper McLachlan, D, Pinessi, L, Foncin, J-F, Montesi, M, Gusella, J
• Format: Journal Article
• Language: English
• Published: United States 01-12-1992
• Subjects: Aged; Alleles; Alzheimer Disease - genetics; Alzheimer's disease; Amyloid beta-Protein Precursor - genetics; Base Sequence; chromosome 14; Chromosome Mapping; Chromosomes, Human, Pair 14; DNA - genetics; Female; gene mapping; genes; Genetic Markers; Humans; Lod Score; Male; man; Middle Aged; Molecular Sequence Data; Pedigree
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng1292-330

Familial Alzheimer's disease (FAD) has been shown to be genetically heterogeneous, with a very small proportion of early onset pedigrees being associated with mutations in the amyloid precursor protein (APP) gene on chromosome 21, and some late onset pedigrees showing associations with markers on chromosome 19. We now provide evidence for a major early onset FAD locus on the long arm of chromosome 14 near the markers D14S43 and D14S53 (multipoint lod score z = 23.4) and suggest that the inheritance of FAD may be more complex than had initially been suspected.