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Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI.
Open accessAbstract
We have used restriction isotyping (restriction enzyme isoform genotyping) for rapid typing of common apolipoprotein E isoforms (E2, E3, E4). ApoE restriction isotyping used oligonucleotides to amplify apolipoprotein E gene sequences containing amino acid positions 112 and 158. The amplification products were digested with HhaI and subjected to electrophoresis on polyacrylamide gels. Each of the isoforms was distinguished by a unique combination of HhaI fragment sizes that enabled unambiguous typing of all homozygotic and heterozygotic combinations. HhaI cleaves at GCGC encoding 112arg (E4) and 158arg (E3, E4), but does not cut at GTGC encoding 112cys (E2, E3) and 158cys (E2).
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“The common APOE genotypes can be easily determined by isotyping with the restriction enzyme Hha I13).”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [13]
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Kitzlerová, E., Fišar, Z., Lelková, P., Jirák, R., Zvěřová, M., Hroudová, J., Manukyan, A., Martásek, P., & Raboch, J. (2018) · Medical Science Monitor · doi:10.12659/msm.907202 · Cited by 21
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Clinicopathological and genetic characteristics in Chinese patients with lipoprotein glomerulopathy
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Metadata
- Authors
- Hixson, J., & Vernier, D.
- Affiliations
- Texas Biomedical Research Institute (US)
- Venue
- Journal of Lipid Research
- Publisher
- Elsevier BV
- Published
- 1990-03
- Volume
- 31
- Issue
- 3
- Pages
- 545-548
- ISSN
- 0022-2275 (ISSN-L)
- OpenAlex
- W2111774300
- Cited by
- 2,933
- References
- 3
- Citations by year
- 2026: 19 · 2025: 36 · 2024: 40 · 2023: 35 · 2022: 43 · 2021: 48 · 2020: 48 · 2019: 48 · 2018: 56 · 2017: 54 · 2016: 59 · 2015: 76 · 2014: 82 · 2013: 93 · 2012: 89
- FWCI
- 33.40
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Lipid Research (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- National Heart, Lung, and Blood Institute (HL-28972, P01HL028972)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipoproteins and Cardiovascular Health
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- apolipoprotein E, HhaI, gene amplification, apolipoprotein E isoforms
- MeSH terms
- Amino Acid Sequence, Apolipoproteins E, Base Sequence, DNA, Gene Amplification, Humans, Leukocytes, Molecular Sequence Data, Polymorphism, Genetic, Deoxyribonucleases, Type II Site-Specific, Polymerase Chain Reaction
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