title: 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.
authors.affiliation: Institute for Clinical and Experimental Medicine, Laboratory of Molecular Genetics, Prague, Czech Republic. jaroslav.hubacek@msedicon.cz
authors.forename: J A
authors.initials: JA
authors.lastname: Hubácek
authors.forename: V
authors.initials: V
authors.lastname: Adámková
authors.forename: Z
authors.initials: Z
authors.lastname: Skodová
mesh_terms: D000328:Adult; D000368:Aged; D001057:Apolipoproteins E / Q000235:genetics*; D018153:Czech Republic / Q000453:epidemiology; D004252:DNA Mutational Analysis / Q000379:methods; D050171:Dyslipidemias / Q000453:epidemiology* / Q000378:metabolism*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005820:Genetic Testing / Q000379:methods; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D015994:Incidence; D008297:Male; D011110:Polymorphism, Genetic; D035583:Rare Diseases / Q000453:epidemiology / Q000378:metabolism; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors
chemical_list: D001057:Apolipoproteins E