Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement-Rezeptor Typ 1

Vom CR1-Gen wird der Komplement-Rezeptor Typ 1 kodiert, der aktiviertes Komplement C3b und C4b zu binden vermag. Der Mangel besitzt eine Bedeutung für die Entwicklung einer MPGN und besitzt einen Einfluss auf den Verlauf verschiedener Infektionskrankheiten wie Malaria. Auch eine Assoziation mit Autoimmunerkrankungen wie Lupus erythematodes wird diskutiert.

Diagnostik:

Clinic 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:

CR1-Mangel
CR1

Referenzen:

1.

Wong WW et. al. (1989) Structure of the human CR1 gene. Molecular basis of the structural and quantitative polymorphisms and identification of a new CR1-like allele.

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2.

Wong WW et. al. (1985) Identification of a partial cDNA clone for the human receptor for complement fragments C3b/C4b.

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3.

Moldenhauer F et. al. (1987) Inherited deficiency of erythrocyte complement receptor type 1 does not cause susceptibility to systemic lupus erythematosus.

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4.

Wilson JG et. al. (1987) CR1 and the cell membrane proteins that bind C3 and C4. A basic and clinical review.

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5.

Hing S et al. (1988) Assignment of complement components C4 binding protein (C4BP) and factor H (FH) to human chromosome 1q, using cDNA probes.

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6.

Wilson JG et. al. (1986) Identification of a restriction fragment length polymorphism by a CR1 cDNA that correlates with the number of CR1 on erythrocytes.

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7.

Holers VM et. al. (1987) Human complement C3b/C4b receptor (CR1) mRNA polymorphism that correlates with the CR1 allelic molecular weight polymorphism.

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8.

Rodriguez de Cordoba S et al. (1985) Human genes for three complement components that regulate the activation of C3 are tightly linked.

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9.

Ohi H et. al. (1986) Two cases of mesangiocapillary glomerulonephritis with CR1 deficiency.

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10.

Weis JH et al. (1987) A complement receptor locus: genes encoding C3b/C4b receptor and C3d/Epstein-Barr virus receptor map to 1q32.

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11.

Wilson JG et. al. (1985) Autoantibody to the C3b/C4b receptor and absence of this receptor from erythrocytes of a patient with systemic lupus erythematosus.

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12.

Miyakawa Y et. al. (1981) Defective immune-adherence (C3b) receptor on erythrocytes from patients with systemic lupus erythematosus.

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13.

Gerdes J et. al. (1982) Ultrastructural localization of human complement C3b receptors in the human kidney as determined by immunoperoxidase staining with the monoclonal antibody C3RTo5.

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14.

Dykman TR et. al. (1983) Structural heterogeneity of the C3b/C4b receptor (Cr 1) on human peripheral blood cells.

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15.

Dykman TR et. al. (1984) Polymorphism of the human C3b/C4b receptor. Identification of a third allele and analysis of receptor phenotypes in families and patients with systemic lupus erythematosus.

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16.

Dykman TR et. al. (1983) Polymorphism of human erythrocyte C3b/C4b receptor.

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17.

Iida K et. al. (1982) Complement receptor (CR1) deficiency in erythrocytes from patients with systemic lupus erythematosus.

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18.

Wilson JG et. al. (1982) Mode of inheritance of decreased C3b receptors on erythrocytes of patients with systemic lupus erythematosus.

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19.

Rowe JA et. al. (1997) P. falciparum rosetting mediated by a parasite-variant erythrocyte membrane protein and complement-receptor 1.

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20.

Xiang L et al. (1999) Quantitative alleles of CR1: coding sequence analysis and comparison of haplotypes in two ethnic groups.

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21.

Moulds JM et. al. (2000) Blood group associations with parasites, bacteria, and viruses.

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22.

Józsi M et. al. (2002) Complement receptor type 1 (CD35) mediates inhibitory signals in human B lymphocytes.

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23.

Smith BO et. al. (2002) Structure of the C3b binding site of CR1 (CD35), the immune adherence receptor.

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24.

None (1953) The immune-adherence phenomenon; an immunologically specific reaction between microorganisms and erythrocytes leading to enhanced phagocytosis.

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25.

Cockburn IA et. al. (2004) A human complement receptor 1 polymorphism that reduces Plasmodium falciparum rosetting confers protection against severe malaria.

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26.

Nath SK et. al. (2005) Polymorphisms of complement receptor 1 and interleukin-10 genes and systemic lupus erythematosus: a meta-analysis.

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27.

Fairweather D et. al. (2006) Complement receptor 1 and 2 deficiency increases coxsackievirus B3-induced myocarditis, dilated cardiomyopathy, and heart failure by increasing macrophages, IL-1beta, and immune complex deposition in the heart.

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28.

van de Sande WW et. al. (2007) Polymorphisms in genes involved in innate immunity predispose toward mycetoma susceptibility.

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29.

Tham WH et. al. (2010) Complement receptor 1 is the host erythrocyte receptor for Plasmodium falciparum PfRh4 invasion ligand.

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