Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement-Komponente C4, A-Kette

Das C4A-Gen kodiert, wie das sich nur in wenigen Aminosäuren unterscheidende C4B-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 C4A-Mangel
C4A

Referenzen:

1.

Lamm LU et. al. (1977) On the HLA-B,D map distance.

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2.

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

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3.

Jackson CG et. al. (1979) Immune response of a patient with deficiency of the fourth component of complement and systemic lupus erythematosus.

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4.

Awdeh ZL et. al. (1979) Genetic polymorphism of human complement C4 and detection of heterozygotes.

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5.

Giles CM et. al. (1976) Rga (Rodgers) and the HLA region: linkage and associations.

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6.

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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7.

Ebanks RO et. al. (1992) A single arginine to tryptophan interchange at beta-chain residue 458 of human complement component C4 accounts for the defect in classical pathway C5 convertase activity of allotype C4A6. Implications for the location of a C5 binding site in C4.

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8.

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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9.

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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10.

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

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11.

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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12.

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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13.

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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14.

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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15.

Teisberg P et. al. (1988) Restriction fragment length polymorphisms of the complement component C4 loci on chromosome 6: studies with emphasis on the determination of gene number.

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16.

White PC et. al. (1985) Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man.

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17.

Robinson MA et. al. (1985) Localization of C4 genes within the HLA complex by molecular genotyping.

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18.

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

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19.

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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20.

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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21.

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

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22.

Wilton AN et. al. (1986) Order of class III genes relative to HLA genes determined by the haplotype method.

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23.

Belt KT et. al. (1985) Polymorphism of human complement component C4.

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24.

Carroll MC et. al. (1985) Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

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25.

Sjöholm AG et. al. (1985) C4 allotypes and HLA-DR antigens in the family of a patient with C4 deficiency.

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26.

Rittner C et. al. (1984) An international reference typing for Ch and Rg determinants on rare human C4 allotypes.

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27.

Palsdottir A et. al. () Correlation between a DNA restriction fragment length polymorphism and C4A6 protein.

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28.

Olaisen B et. al. (1983) Gene order and gene distances in the HLA region studied by the haplotype method.

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29.

Mauff G et. al. (1984) Human C4 polymorphism: pedigree analysis of qualitative, quantitative, and functional parameters as a basis for phenotype interpretations.

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30.

Whitehead AS et. al. (1983) Use of a cDNA clone for the fourth component of human complement (C4) for analysis of a genetic deficiency of C4 in guinea pig.

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31.

Whitehead AS et. al. (1984) DNA polymorphism of the C4 genes. A new marker for analysis of the major histocompatibility complex.

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32.

Raum D et. al. (1984) Human C4 haplotypes with duplicated C4A or C4B.

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33.

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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34.

Mauff G et. al. (1983) The C4 beta-chain: evidence for a genetically determined polymorphism.

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35.

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

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36.

Bruun-Petersen G et. al. (1981) Family studies of complement C4 and HLA in man.

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37.

Kjellman M et. al. (1982) Homozygous deficiency of C4 in a child with a lupus erythematosus syndrome.

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38.

Bruun-Petersen G et. al. (1982) Genetics of complement C4. Two homoduplication haplotypes C4S C4S and C4F C4F in a family.

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39.

Lundwall A et. al. (1981) Isolation of component C4 of human complement and its polypeptide chains.

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40.

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

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41.

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

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42.

Jiang PP et. al. (1996) Localization of the mouse gene releasing sex-limited expression of Slp.

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43.

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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44.

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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45.

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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46.

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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47.

Nelson KC et. al. (2006) Role of different pathways of the complement cascade in experimental bullous pemphigoid.

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48.

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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49.

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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