Rare variant of apolipoprotein E (Arg136 -->Ser) in two normolipidemic individuals.

Abstract:

:Through the analysis of the common apolipoprotein (apo) E gene polymorphism in large Caucasian population study with the PCR and subsequent restriction analysis, we have identified carriers of mutant allele Arg136-->Ser. Both of them (71-years-old female and her 43-years-old son) have normal lipid parameters. We suggest that Arg136-->Ser mutation in apoE is not necessarily connected with elevated lipid levels in all cases. Furthermore, so far unidentified factors (environmental and/or genetic) are important for the development of lipid metabolism disorders in apoE Arg136-->Ser mutation carriers.

journal_name

Physiol Res

journal_title

Physiological research

authors

Hubácek JA,Adámková V,Skodová Z

subject

Has Abstract

pub_date

2005-01-01 00:00:00

pages

573-5

issue

5

eissn

0862-8408

issn

1802-9973

pii

687

journal_volume

54

pub_type

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