van Duijn C M, van Broeckhoven C, Hardy J A, Goate A M, Rossor M N, Vandenberghe A, Martin J J, Hofman A, Mullan M J
Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands.
Br J Psychiatry. 1991 Apr;158:471-4. doi: 10.1192/bjp.158.4.471.
Age of onset was examined for 139 members of 30 families affected by early-onset AD. Most (77%) of the variance of age of onset derived from differences between rather than within families. The constancy of age of onset within families was also observed in an analysis restricted to families derived from a population-based epidemiological study with complete ascertainment of early-onset AD. Furthermore, we observed clustering of age of onset within those families that support linkage to the predisposing locus on chromosome 21. Our data are compatible with the view that allelic heterogeneity at the AD locus may account for the similarity in age of onset within families. This finding may be of value for scientific studies of AD as well as for genetic counselling.
对30个早发性阿尔茨海默病（AD）家系的139名成员进行了发病年龄检查。发病年龄的大部分变异（77%）源自家系间而非家系内的差异。在一项仅限于来自基于人群的流行病学研究且完全确诊早发性AD的家系分析中，也观察到了家系内发病年龄的稳定性。此外，我们在那些支持与21号染色体上易感基因座连锁的家系中观察到了发病年龄的聚集现象。我们的数据与以下观点相符，即AD基因座上的等位基因异质性可能解释了家系内发病年龄的相似性。这一发现可能对AD的科学研究以及遗传咨询具有价值。
