Characterization of the gene for apolipoprotein E5‐Frankfurt (Gln81 ‐> Lys, Cys112 ‐> Arg) by polymerase chain reaction, restriction isotyping, and temperature gradient gel electrophoresis
Abstract
A new apolipoprotein (apo) E variant, apoE5‐Frankfurt, was identified in a 43‐year‐old male with moderate hypercholesterolemia. On isoelectric focusing in an immobilized pH gradient, apoE5‐Frankfurt migrated to a position more cathodic than apoE4 (Cys 112 ‐> Arg). On sodium dodecyl sulfate‐gel electrophoresis, its apparent molecular weight could not be distinguished from that of the three common apoE isoforms (E2, E3 and E4). Restriction isotyping with Cfo I (Hha I) showed that apoE5‐Frankfurt had arginine in positions 112 and 158 of the mature protein, suggesting that the mutation accounting for the additional positive charge had occurred in an ϵ4 allele. The third and the fourth exon of the apoE gene were amplified using the polymerase chain reaction and analyzed by temperature gradient gel electrophoresis. This suggested that there were two mutations in the fourth exon of the mutant allele. Cloning and sequencing disclosed that, apart from the exchange of arginine for cysteine in position 112, a C to A substitution replaced glutamine (CAA) in position 81 by lysine (AAA).
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Two APOE1 Barden (Arg180Cys) heterozygotes in a family study showed hypertriglyceridemia.
“Furthermore, two APOE1 Barden (Arg180Cys) heterozygotes in a family study showed hypertriglyceridemia112)”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [112]
APOE5 Frankfurt (Gln81Lys, Cys112Arg) heterozygosity was identified in a 43-year-old man with moderate CHL.
“Moreover, APOE5 Frankfurt (Gln81Lys, Cys112Arg) heterozygosity was identified in a 43-year-old man with moderate CHL112).”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [112]
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APOE gene variants in primary dyslipidemia
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Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features
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- Authors
- Ruzicka, V., Mäz, W., Russ, A., Fisher, E., Mondorf, W., & Groß, W.
- Affiliations
- Goethe University Frankfurt (DE)
- Corresponding author
- Mäz, Winfried
- Venue
- ELECTROPHORESIS
- Publisher
- Wiley
- Published
- 1993-01
- Volume
- 14
- Issue
- 1
- Pages
- 1032-1037
- ISSN
- 0173-0835 (ISSN-L)
- 1522-2683
- OpenAlex
- W2101336658
- Cited by
- 21
- References
- 7
- Citations by year
- 2025: 1 · 2022: 1 · 2021: 1 · 2015: 1 · 2014: 1 · 2013: 1
- FWCI
- 2.25
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Electrophoresis (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Keywords
- apolipoprotein E gene, hypercholesterolemia, temperature gradient gel electrophoresis, exon mutations, protein isoforms, genetic characterization
- MeSH terms
- Adult, Apolipoproteins, Apolipoproteins E, Base Sequence, Electrophoresis, Humans, Hypercholesterolemia, Immunoglobulin Isotypes, Lipoproteins, Male, Molecular Sequence Data, Temperature, Restriction Mapping, Polymerase Chain Reaction
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