Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Vitamin D-Bindungsprotein

Das mit dem Symbol GC bezeichnete Gen kodiert ein Protein, welches zur Albuminfamilie gehört. Die wichtigste Funktion scheint die Bindung und der Transport von Vitamin D-Metaboliten zu sein. Deshalb wird es in vielen Körperflüssigkeiten und auf Zelloberflächen gefunden. Genetische Untersuchungen zeigten die Assoziation einiger Polymorphismen mit dem Morbus Basedow.

Diagnostik:

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

Krankheiten:

Basedow-Krankheit
GC

Referenzen:

1.

Lee WM et al. (1992) The extracellular actin-scavenger system and actin toxicity.

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2.

Mars M et al. (1976) Dentinogenesis imperfecta. Report of a 5-generation family.

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3.

Pani MA et al. (2002) A polymorphism within the vitamin D-binding protein gene is associated with Graves' disease but not with Hashimoto's thyroiditis.

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4.

Johnson AM et al. (1975) Variants of the group-specific component system as demonstrated by immunofixation electrophoresis. Report of a new variant, Gc Boston (Ge B).

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5.

Braun A et al. (1992) Molecular analysis of the gene for the human vitamin-D-binding protein (group-specific component): allelic differences of the common genetic GC types.

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6.

HIRSCHFELD J et al. (1962) The Gc-system. Immuno-electrophoretic studies of normal human sera with special reference to a new genetically determined system (Gc).

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7.

PARKER WC et al. (1963) DETERMINATION OF PHENOTYPES IN THE HUMAN GROUP-SPECIFIC COMPONENT (GC) SYSTEM BY STARCH GEL ELECTROPHORESIS.

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8.

CLEVE H et al. (1963) TWO GENETIC VARIANTS OF THE GROUP-SPECIFIC COMPONENT OF HUMAN SERUM: GC CHIPPEWA AND GC ABORIGINE.

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9.

BEARN AG et al. (1964) GENETIC AND BIOCHEMICAL CONSIDERATIONS OF THE SERUM GROUP-SPECIFIC COMPONENT.

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10.

HIRSCHFELD J et al. (1959) Immune-electrophoretic demonstration of qualitative differences in human sera and their relation to the haptoglobins.

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11.

Yang F et al. (1990) Mapping and conservation of the group-specific component gene in mouse.

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12.

Yamamoto N et al. (1991) Vitamin D3 binding protein (group-specific component) is a precursor for the macrophage-activating signal factor from lysophosphatidylcholine-treated lymphocytes.

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13.

Svasti J et al. (1979) Molecular basis for the three major forms of human serum vitamin D binding protein (group-specific component).

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14.

Yang F et al. (1985) Evolutionary and structural relationships among the group-specific component, albumin and alpha-fetoprotein.

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15.

Yang F et al. (1985) Human group-specific component (Gc) is a member of the albumin family.

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16.

Cooke NE et al. (1985) Serum vitamin D-binding protein is a third member of the albumin and alpha fetoprotein gene family.

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17.

Schoentgen F et al. (1985) Homology between the human vitamin D-binding protein (group specific component), alpha-fetoprotein and serum albumin.

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18.

Yasuda T et al. (1989) A hereditary double double-banded variation in the vitamin D-binding protein (GC) system analyzed by immunoblotting: duplication of the 1F and 1A2 genes?

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19.

Yamamoto Y et al. (1989) Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait.

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20.

Eales LJ et al. (1987) Association of different allelic forms of group specific component with susceptibility to and clinical manifestation of human immunodeficiency virus infection.

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21.

Cooke NE et al. (1986) Direct regional assignment of the gene for vitamin D binding protein (Gc-globulin) to human chromosome 4q11-q13 and identification of an associated DNA polymorphism.

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22.

Szathmary EJ et al. (1987) The effect of Gc genotype on fasting insulin level in Dogrib Indians.

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23.

et al. (1987) Genetic susceptibility to AIDS: absence of an association with group-specific component (Gc)

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24.

McCombs JL et al. (1986) Chromosomal localization of group-specific component by in situ hybridization.

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25.

Pierce EA et al. (1985) Monoclonal antibodies to human vitamin D-binding protein.

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26.

Cleve H et al. (1967) On the distribution of the Gc variant Gc Aborigine in Melanesian populations; determination of Gc-types in sera from Tongariki Island, New Hebrides.

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27.

Rucknagel DL et al. (1968) The Bangkok variant of the serum group-specific component (Gc) and the frequency of the Gc alleles in Thailand.

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28.

Daiger SP et al. (1975) Group-specific component (Gc) proteins bind vitamin D and 25-hydroxyvitamin D.

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29.

Henningsen K et al. (1969) B-F chromosome translocation associated with father-child incompatibility within the Gc-system.

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30.

Mikkelsen M et al. (1977) Possible localization of Gc-System on chromosome 4. Loss of long arm 4 material associated with father-child incompatibility within the Gc-System.

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31.

German JL et al. (1969) Autoradiographic studies of human chromosomes. II. Data concerning the position of the MN locus.

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32.

Weitkamp LR et al. (1966) Genetic linkage between structural loci for albumin and group specific component (Gc).

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33.

Mourant AE et al. (1976) Sunshine and the geographical distribution of the alleles of the Gc system of plasma proteins.

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34.

Karlsson S et al. (1980) Frequency of Gc alleles and a variant Gc allele in Iceland.

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35.

Thymann M et al. (1982) Five new Gc variants detected by isoelectric focusing in agarose gel.

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36.

Daiger SP et al. (1984) Heritability of quantitative variation at the group-specific component (Gc) locus.

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37.

Petrini M et al. () Linkage between surface immunoglobulin and cytoskeleton of B lymphocytes may involve Gc protein.

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38.

Dykes D et al. (1983) Description of six new Gc variants.

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39.

Vavrusa B et al. (1983) A deficiency mutant of the Gc system.

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40.

Constans J et al. (1983) The polymorphism of the vitamin D-binding protein (Gc); isoelectric focusing in 3 M urea as additional method for identification of genetic variants.

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41.

Dykes DD et al. (1982) Gc 1C12: a new Gc variant.

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42.

Ball SP et al. (1982) Linkage between dentinogenesis imperfecta and Gc.

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43.

Cleve H et al. (1977) The vitamin D binding of the common and rare variants of the group-specific component (Gc). An autoradiographic study.

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44.

Constans J et al. (1977) Group-specific component: evidence for two subtypes of the Gc1 gene.

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45.

Daiger SP et al. (1977) Detection of genetic variation with radioactive ligands. II. Genetic variants of vitamin D-labeled group-specific component (Gc) proteins.

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46.

Braun A et al. (1993) Sequence and organization of the human vitamin D-binding protein gene.

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47.

Kofler A et al. (1995) Characterization of mutants of the vitamin-D-binding protein/group specific component: GC aborigine (1A1) from Australian aborigines and South African blacks, and 2A9 from south Germany.

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48.

Weitkamp LR et al. (1978) Concerning the linkage relationships of the Gc and MNSs loci.

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49.

Witke WF et al. (1993) Complete structure of the human Gc gene: differences and similarities between members of the albumin gene family.

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50.

Braun A et al. (1993) Molecular evaluation of an Alu repeat including a polymorphic variable poly(dA) (AluVpA) in the vitamin D binding protein (DBP) gene.

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51.

Chautard-Freire-Maia EA et al. (1979) Concerning the linkage relationships of the Gc and MNSs loci. (Hum. Genet. 43, 215-220, 1978) Disentangling part of the data overlap.

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52.

Baier LJ et al. (1998) Variations in the vitamin D-binding protein (Gc locus) are associated with oral glucose tolerance in nondiabetic Pima Indians.

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