St George-Hyslop P, Haines J, Rogaev E, Mortilla M, Vaula G, Pericak-Vance M, Foncin J F, Montesi M, Bruni A, Sorbi S, Rainero I, Pinessi L, Pollen D, Polinsky R, Nee L, Kennedy J, Macciardi F, Rogaeva E, Liang Y, Alexandrova N, Lukiw W, Schlumpf K, Tanzi R, Tsuda T, Farrer L, Cantu J M, Duara R, Amaducci L, Bergamini L, Gusella J, Roses A, Crapper McLachlan D
Dept. of Medicine, University of Toronto, Ontario, Canada.
Nat Genet. 1992 Dec;2(4):330-4. 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.
家族性阿尔茨海默病（FAD）已被证明具有遗传异质性，只有很小一部分早发性家系与21号染色体上淀粉样前体蛋白（APP）基因的突变有关，一些晚发性家系则显示与19号染色体上的标记物有关联。我们现在提供证据表明，在靠近标记物D14S43和D14S53的14号染色体长臂上存在一个主要的早发性FAD基因座（多点连锁lod分数z = 23.4），并表明FAD的遗传可能比最初怀疑的更为复杂。
