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

Autor: M.P. Montesi, Ranjan Duara, T. Tsuda, Jonathan L. Haines, Amalia C. Bruni, Rudolph E. Tanzi, N. Alexandrova, James F. Gusella, J. M. Cantu, Fabio Macciardi, Allen D. Roses, Walter J. Lukiw, Lindsay A. Farrer, Ekaterina Rogaeva, James L. Kennedy, Sandro Sorbi, M. Mortilla, Karen Schlumpf, L. Nee, Evgeny I. Rogaev, L. Bergamini, Daniel A. Pollen, Innocenzo Rainero, P. St. George-Hyslop, R. Polinsky, Luigi Amaducci, Yan Liang, J. F. Foncin, Margaret A. Pericak-Vance, D. R. Crapper McLachlan, G. Vaula, Lorenzo Pinessi
Rok vydání: 1992
Předmět:
Zdroj: Nature Genetics. 2:330-334
ISSN: 1546-1718
1061-4036
DOI: 10.1038/ng1292-330
Popis: 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.
Databáze: OpenAIRE