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FEBS Lett. 1998 Jan 9;421(2):105-8.

Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene.

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  • 1Departamento de Biología Molecular, (C.S.I.C.-U.A.M.), Universidad Autónoma de Madrid, Cantoblanco, Spain.


In this work, we explored the existence of genetic variants within the apolipoprotein E gene transcriptional regulatory region, using a denaturing gradient gel electrophoresis screening of a region comprising nucleotides -1017 to +406. Upon a population study, three new polymorphic sites (-491, -427 and -219) and two mutations were found. Functional effects of the polymorphisms, assayed by transient transfection and electrophoretic mobility shift assays in a human hepatoma cell line, showed that polymorphisms at sites -491 and -219 of the APOE promoter produce variations in the transcriptional activity of the gene, most probably through differential binding of nuclear proteins.

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