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.

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14 / P. St George-Hyslop, J. Haines, E. Rogaev, M. Mortilla, G. Vaula, M. Pericak-Vance, J. F. Foncin, M. Montesi, A. Bruni, S. Sorbi, I. Rainero, L. Pinessi, D. Pollen, R. Polinsky, L. Nee, J. Kennedy, F. Macciardi, E. Rogaeva, Y. Liang, N. Alexandrova, W. Lukiw, K. Schlumpf, R. Tanzi, T. Tsuda, L. Farrer, J. M. Cantu, R. Duara, L. Amaducci, L. Bergamini, J. Gusella, A. Roses, D. Crapper McLachlan. - In: NATURE GENETICS. - ISSN 1061-4036. - 2:4(1992 Dec), pp. 330-4-334.

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

F. Macciardi;
1992

Abstract

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.
Pedigree; Humans; Alzheimer Disease; Genetic Markers; Aged; Chromosomes, Human, Pair 14; Chromosome Mapping; Alleles; Base Sequence; Lod Score; Molecular Sequence Data; DNA; Middle Aged; Amyloid beta-Protein Precursor; Female; Male
Settore MED/03 - Genetica Medica
dic-1992
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/201351
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