Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Das Gen APOA2 kodiert das Apolipoprotein A II, das zweithäufigste Protein in den HDL-Partikeln. Die physiologische Rolle ist noch unklar. Wahrscheinlich kann die Funktion auch von anderen Proteinen übernommen werden, denn es wurde ein Fall mit absolutem APOA2-Mangel beschrieben, der kleine klinischen Auffälligkeiten zeigte.
| Klinisch | Untersuchungsmethoden | Familienuntersuchung |
| Bearbeitungszeit | 5 Tage | |
| Probentyp | genomische DNS |
| Klinisch | Untersuchungsmethoden | Hochdurchsatz-Sequenzierung |
| Bearbeitungszeit | 25 Tage | |
| Probentyp | genomische DNS |
| Klinisch | Untersuchungsmethoden | Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens |
| Bearbeitungszeit | 25 Tage | |
| Probentyp | genomische DNS |
| 1. |
Deeb SS et al. (1990) A splice-junction mutation responsible for familial apolipoprotein A-II deficiency. 
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| 2. |
Allayee H et al. (2003) Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemia.
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| 3. |
Takada D et al. (2002) Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.
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| 4. |
Warden CH et al. (1993) Evidence for linkage of the apolipoprotein A-II locus to plasma apolipoprotein A-II and free fatty acid levels in mice and humans.
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| 5. |
Lackner KJ et al. (1984) The human apolipoprotein A-II gene is located on chromosome 1.
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| 6. |
Lusis AJ et al. (1983) Genetic control of lipid transport in mice. II. Genes controlling structure of high density lipoproteins.
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| 7. |
Knott TJ et al. (1984) Chromosomal localization of the human apoprotein CI gene and of a polymorphic apoprotein AII gene.
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| 8. |
Moore MN et al. (1984) Human apolipoprotein A-II: nucleotide sequence of a cloned cDNA, and localization of its structural gene on human chromosome 1.
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| 9. |
Middleton-Price HR et al. (1988) Regional chromosomal localisation of APOA2 to 1q21-1q23.
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| 10. |
Knott TJ et al. (1985) The human apolipoprotein AII gene: structural organization and sites of expression.
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| 11. |
Lackner KJ et al. (1985) The human apolipoprotein A-II gene: complete nucleic acid sequence and genomic organization.
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| 12. |
Kessling AM et al. (1988) DNA polymorphisms of the apolipoprotein AII and AI-CIII-AIV genes: a study in men selected for differences in high-density-lipoprotein cholesterol concentration.
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| 13. |
Scott J et al. (1985) High-density lipoprotein composition is altered by a common DNA polymorphism adjacent to apoprotein AII gene in man.
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| 14. |
Rogne S et al. (1989) The genes for apolipoprotein all (APOA2) and the Duffy blood group (FY) are linked on chromosome 1 in man.
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| 15. |
Tsao YK et al. (1985) Isolation and characterization of the human apolipoprotein A-II gene. Electron microscopic analysis of RNA:DNA hybrids, nucleotide sequence, identification of a polymorphic MspI site, and general structural organization of apolipoprotein genes.
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| 16. |
Oakey RJ et al. (1992) Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA.
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| 17. |
OMIM.ORG article Omim 107670
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| 18. |
Orphanet article Orphanet ID 188814
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| 19. |
NCBI article NCBI 336
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