Rascón Trincado M V, González Sarmiento R, Salazar A-Villalobos V
Departamento de Pediatría, Facultad de Medicina, Salamanca.
Rev Clin Esp. 1997 Oct;197(10):680-3.
Some individuals with Down syndrome develop an Alzheimer-type dementia in the third and fourth decades of life. Dementia in Alzheimer disease has been associated with the presence of genotype epsilon 4/epsilon 4 in apolipoprotein E (apo E). By means of molecular analysis techniques genotypes in lipoprotein apo E were identified in 21 patients with Down syndrome. The results obtained showed that 76% of the studied population had the genotype epsilon 3/epsilon 3 and 9% genotypes epsilon 3/epsilon 4 and epsilon 2/epsilon 3. None of the cases was homozygous for the allele epsilon 4. The analysis of our data shows the absence of differences between the distribution of genotype apo E among the Down population studied and among general population. We therefore consider that the presence of the allele epsilon 4 has no influence on the manifestation of Alzheimer disease in patients with Down syndrome.
一些唐氏综合征患者在生命的第三和第四个十年会患上阿尔茨海默病类型的痴呆症。阿尔茨海默病中的痴呆症与载脂蛋白E（apo E）中ε4/ε4基因型的存在有关。通过分子分析技术，在21名唐氏综合征患者中鉴定了脂蛋白apo E的基因型。获得的结果表明，76%的研究人群具有ε3/ε3基因型，9%具有ε3/ε4和ε2/ε3基因型。没有一个病例是ε4等位基因的纯合子。对我们数据的分析表明，在所研究的唐氏人群和普通人群中，apo E基因型的分布没有差异。因此，我们认为ε4等位基因的存在对唐氏综合征患者阿尔茨海默病的表现没有影响。
