Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement-Komponente C4, B-Kette

Das C4B-Gen kodiert, wie das sich nur in wenigen Aminosäuren unterscheidende C4A-Gen, den Komplementfaktor C4. Partieller Mangel dieses Komplementfaktors kann zu Infektionsabwehrstörungen führen, während bei einer kompletten Deletion häufig Autoimmunerkrankungen wie Lupus erythmatodes und Typ 1 Diabetes beobachtet werden.

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:

Komplement C4B-Mangel
C4B

Referenzen:

1.

O'Neill GJ et. al. (1978) Two HLA-linked loci controlling the fourth component of human complement.

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2.

Teisberg P et. al. (1976) Genetic polymorphism of C4 in man and localisation of a structural C4 locus to the HLA gene complex of chromosome 6.

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3.

None (1991) The complete exon-intron structure of a human complement component C4A gene. DNA sequences, polymorphism, and linkage to the 21-hydroxylase gene.

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4.

Braun L et. al. (1990) Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus.

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5.

Welch TR et. al. (1990) Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

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6.

Carroll MC et. al. (1990) Substitution of a single amino acid (aspartic acid for histidine) converts the functional activity of human complement C4B to C4A.

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7.

Yu CY et. al. (1986) Structural basis of the polymorphism of human complement components C4A and C4B: gene size, reactivity and antigenicity.

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8.

Partanen J et. al. (1989) Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis.

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9.

Palsdottir A et. al. (1987) Heterogeneity of human C4 gene size. A large intron (6.5 kb) is present in all C4A genes and some C4B genes.

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10.

Prentice HL et. al. (1986) C4B gene polymorphism detected in a human cosmid clone.

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11.

Schneider PM et. al. (1986) Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants.

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12.

Partanen J et. al. (1988) C4 null phenotypes among lupus erythematosus patients are predominantly the result of deletions covering C4 and closely linked 21-hydroxylase A genes.

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13.

Carroll MC et. al. (1987) Polymorphism and molecular genetics of human C4.

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14.

Mascart-Lemone F et. al. (1983) Genetic deficiency of C4 presenting with recurrent infections and a SLE-like disease. Genetic and immunologic studies.

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15.

Awdeh ZL et. al. (1980) Inherited structural polymorphism of the fourth component of human complement.

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16.

Awdeh ZL et. al. (1981) Genetic analysis of C4 deficiency.

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17.

Barba G et. al. (1993) Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression.

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18.

Suto Y et. al. (1996) Visual demonstration of the organization of the human complement C4 and 21-hydroxylase genes by high-resolution fluorescence in situ hybridization.

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19.

Schneider PM et. al. (2001) The endogenous retroviral insertion in the human complement C4 gene modulates the expression of homologous genes by antisense inhibition.

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20.

Chung EK et. al. (2002) Determining the one, two, three, or four long and short loci of human complement C4 in a major histocompatibility complex haplotype encoding C4A or C4B proteins.

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21.

Chung EK et. al. (2002) Genetic sophistication of human complement components C4A and C4B and RP-C4-CYP21-TNX (RCCX) modules in the major histocompatibility complex.

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22.

Yang Y et. al. (2007) Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans.

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23.

Boteva L et. al. (2012) Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations.

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24.

Meo T et. al. (1975) Immunochemical characterization of murine H-2 controlled Ss (serum substance) protein through identification of its human homologue as the fourth component of complement.

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25.

O'Neill GJ et. al. (1978) Chido and Rodgers blood groups are distinct antigenic components of human complement C4.

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26.

Ochs HD et. al. (1977) Linkage between the gene (or genes) controlling synthesis of the fourth component of complement and the major histocompatibility complex.

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27.

Hall RE et. al. (1977) Cell-free synthesis of the fourth component of guinea pig complement (C4): identification of a precursor of serum C4 (pro-C4).

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28.

Cunningham-Rundles C et. al. (1977) Are HLA and Chido related antigenic groups?

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29.

Cunningham-Rundles C et. al. (1977) Chemical studies on the Chido antigen.

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30.

Olaisen B et. al. (1979) Human complement C4 locus is duplicated on some chromosomes.

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31.

Cream JJ et. al. (1979) Genetic basis of acquired C4 deficiency.

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32.

Petersen GB et. al. (1979) Genetic studies of complement C4 in man.

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33.

Brade V et. al. (1977) Biosynthesis of pro-C3, a precursor of the third component of complement.

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34.

Porter RR et. al. (1978) The biochemistry of complement.

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35.

O'Neill GJ et. al. (1978) Chido and Rodgers blood groups: relationship to C4 and HLA.

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36.

None (1976) The S region of the mouse major histocompatibility complex (H-2): genetic variation and functional role in complement system.

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37.

Hobart MJ et al. (1976) Allotypes of complement components in man.

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38.

Krönke M et. al. (1977) Linkage of guinea pig Bf and C4 TO THE GPLA.

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39.

Schaller JG et. al. () Severe systemic lupus erythematosus with nephritis in a boy with deficiency of the fourth component of complement.

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40.

Lachmann PJ et. al. (1975) Identification of Ss protein as murine C4.

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41.

Curman B et. al. (1975) H-2 linked Ss protein is C4 component of complement.

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42.

Fasano MB et. al. (1992) A unique recombination event resulting in a C4A*Q0,C4B*Q0 double null haplotype.

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43.

Kramer J et. al. (1991) A marked drop in the incidence of the null allele of the B gene of the fourth component of complement (C4B*Q0) in elderly subjects: C4B*Q0 as a probable negative selection factor for survival.

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44.

Eikelenboom P et. al. (1988) Complement C4 phenotypes in dementia of the Alzheimer type.

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45.

Welch TR et. al. (1985) C4 uremic variant: an acquired C4 allotype.

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46.

Whitehead AS et. al. (1985) Localization of the human MHC-linked complement genes between HLA-B and HLA-DR by using HLA mutant cell lines.

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47.

Ellman L et. al. (1970) Genetically controlled total deficiency of the fourth component of complement in the guinea pig.

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48.

Rosenfeld SI et. al. (1969) Structural polymorphism of the fourth component of human complement.

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49.

Wank R et. al. (1984) Rare variant of complement C4 is seen in high frequency in patients with primary glomerulonephritis.

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50.

Fontaine M et. al. (1980) A common antigenic determinant on human C4b and C3b.

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51.

Roos MH et. al. (1982) A molecular basis for the two locus model of human complement component C4.

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52.

Nerl C et. al. (1984) HLA-linked complement markers in Alzheimer's and Parkinson's disease: C4 variant (C4B2) a possible marker for senile dementia of the Alzheimer type.

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53.

Carroll MC et. al. () A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B.

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54.

Carroll MC et. al. (1983) Cloning of a human complement component C4 gene.

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55.

Chan AC et. al. (1983) Identification and partial characterization of the secreted form of the fourth component of human complement: evidence that it is different from major plasma form.

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56.

None (1984) A new genetic variant for Chido.

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57.

Rittner C et. al. (1981) On the significance of C2, C4, and factor B polymorphisms in disease.

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58.

Pollack MS et. al. (1980) HLA typing of cultured amniotic cells for the prenatal diagnosis of complement C4 deficiency.

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59.

Lhotta K et. al. (1996) Complement C4 phenotypes in patients with end-stage renal disease.

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60.

Szalai C et. al. (2002) Association of polymorphisms and allelic combinations in the tumour necrosis factor-alpha-complement MHC region with coronary artery disease.

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61.

Hall RE et. al. (1978) Genetic defect in biosynthesis of the precursor form of the fourth component of complement.

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