Marazita M L, Spence M A, Heyman A
Department of Human Genetics, Medical College of Virginia, Richmond 23298-0001.
Neurology. 1987 Oct;37(10):1678-9. doi: 10.1212/wnl.37.10.1678.
Two tests for genetic heterogeneity within the framework of linkage analysis were performed among 18 caucasian families with Alzheimer's disease, for each of 27 phenotypic markers. Both tests were performed twice, first assuming that individuals with Down's syndrome were also "affected" with Alzheimer's disease, and second assuming that they were not. No statistically significant heterogeneity was found under either test, regardless of the affected status assumption. However, trends in the data were consistent with heterogeneous etiology between families with both Alzheimer's disease and Down's syndrome versus families with Alzheimer's disease only. The trends were stronger when the Down's syndrome members were considered affected, and were most striking for linkage with the MNSs locus.
在18个患有阿尔茨海默病的白种人家庭中，针对27个表型标记中的每一个，在连锁分析框架内进行了两项遗传异质性测试。两项测试均进行了两次，第一次假设唐氏综合征患者也“患有”阿尔茨海默病，第二次假设他们没有。无论对患病状态如何假设，在两项测试中均未发现具有统计学意义的异质性。然而，数据趋势与同时患有阿尔茨海默病和唐氏综合征的家庭与仅患有阿尔茨海默病的家庭之间病因异质性一致。当将唐氏综合征成员视为患病时，这些趋势更为明显，并且与MNSs位点的连锁最为显著。
