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[The apolipoprotein E genotype and Down's syndrome].

作者信息

Rascón Trincado M V, González Sarmiento R, Salazar A-Villalobos V

机构信息

Departamento de Pediatría, Facultad de Medicina, Salamanca.

出版信息

Rev Clin Esp. 1997 Oct;197(10):680-3.

PMID:9424665
Abstract

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.

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