Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Apolipoprotein H

Das APOH Gen kodiert das Apolipoprotein H, welches die Brücke zwischen Lipidstoffwechsel, Koagulation und Infektabwehr schlägt. Es wurde gefunden, dass einige SNPs eine Bedeutung für die Plasmakonzentration besitzen. Damit könnten sie auch einen Effekt auf die prothombotische Wirkung insbesondere bei Patienten mit Phospholipid-Antikörpern besitzen.

Expression

Das beta-2-Glycoprotein wird in der Leber und sporadisch auch in den Darmzellen gebildet. Die Plasmakonzentration betragt 20mg/dl (Bereich 0-35). Nur ein geringer Anteil des Proteins wird an Lipoproteine gebunden.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Apolipoprotein H-Mangel
APOH

Referenzen:

1.

Hirose N et al. (1999) A role for the polymorphism at position 247 of the beta2-glycoprotein I gene in the generation of anti-beta2-glycoprotein I antibodies in the antiphospholipid syndrome.

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2.

Mehdi H et al. () Genetic variation in the apolipoprotein H (beta2-glycoprotein I) gene affects plasma apolipoprotein H concentrations.

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3.

Sheng Y et al. (2001) Impaired thrombin generation in beta 2-glycoprotein I null mice.

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4.

Sanghera DK et al. (2001) Chimpanzee apolipoprotein H (beta2-glycoprotein I): report on the gene structure, a common polymorphism, and a high prevalence of antiphospholipid antibodies.

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5.

Mehdi H et al. (2003) A functional polymorphism at the transcriptional initiation site in beta2-glycoprotein I (apolipoprotein H) associated with reduced gene expression and lower plasma levels of beta2-glycoprotein I.

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6.

Cleve H et al. (1992) Genetic polymorphism of apolipoprotein H (beta 2-glycoprotein I) in African blacks from the Ivory Coast.

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7.

Nonaka M et al. (1992) Molecular cloning of mouse beta 2-glycoprotein I and mapping of the gene to chromosome 11.

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8.

Bancsi LF et al. (1992) Beta 2-glycoprotein I deficiency and the risk of thrombosis.

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9.

Steinkasserer A et al. (1992) Assignment of apolipoprotein H (APOH: beta-2-glycoprotein I) to human chromosome 17q23----qter; determination of the major expression site.

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10.

Mehdi H et al. (1991) Nucleotide sequence and expression of the human gene encoding apolipoprotein H (beta 2-glycoprotein I).

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11.

Agar C et al. (2010) Beta2-glycoprotein I can exist in 2 conformations: implications for our understanding of the antiphospholipid syndrome.

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12.

McNeil HP et al. (1990) Anti-phospholipid antibodies are directed against a complex antigen that includes a lipid-binding inhibitor of coagulation: beta 2-glycoprotein I (apolipoprotein H).

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13.

Sepehrnia B et al. (1989) Genetic studies of human apolipoproteins. VIII. Role of the apolipoprotein H polymorphism in relation to serum lipoprotein concentrations.

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14.

Sepehrnia B et al. (1988) Genetic studies of human apolipoproteins. VII. Population distribution of polymorphisms of apolipoproteins A-I, A-II, A-IV, C-II, E, and H in Nigeria.

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15.

Richter A et al. (1988) Genetic variations of human serum beta 2-glycoprotein I demonstrated by isoelectric focusing.

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16.

Kamboh MI et al. (1988) Genetic studies of human apolipoproteins. IV. Structural heterogeneity of apolipoprotein H (beta 2-glycoprotein I).

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17.

Hoeg JM et al. (1985) Characterization of plasma lipids and lipoproteins in patients with beta 2-glycoprotein I (apolipoprotein H) deficiency.

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18.

Walter H et al. (1979) On the population genetics of beta2-glycoprotein I.

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19.

Koppe AL et al. (1970) Investigations on the genetics and population genetics of the beta 2-glycoprotein I polymorphism.

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20.

Haupt H et al. (1968) [On a hereditary beta-2-glycoprotein I deficiency].

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21.

Cleve H et al. (1968) [Genetic studies on the deficiency of beta 2-glycoprotein I of human serum].

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22.

Cleve H et al. (1969) Further family studies on the genetic control of beta 2-glycoprotein I concentration in human serum.

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23.

Lozier J et al. (1984) Complete amino acid sequence of human plasma beta 2-glycoprotein I.

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24.

Rahimi AG et al. (1977) Serum protein polymorphisms in four populations of Afghanistan.

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25.

Nakaya Y et al. (1980) Activation of human post heparin lipoprotein lipase by apolipoprotein H (beta 2-glycoprotein I).

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26.

Steinkasserer A et al. (1993) Human beta 2-glycoprotein I: molecular analysis of DNA and amino acid polymorphism.

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27.

Sanghera DK et al. (1997) Identification of structural mutations in the fifth domain of apolipoprotein H (beta 2-glycoprotein I) which affect phospholipid binding.

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28.

Sheng Y et al. (1997) Cloning and characterization of the gene encoding the mouse beta 2-glycoprotein I.

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29.

Sanghera DK et al. (1997) Molecular basis of the apolipoprotein H (beta 2-glycoprotein I) protein polymorphism.

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