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.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Ellman L et al. (1970) Genetically controlled total deficiency of the fourth component of complement in the guinea pig.
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2. |
Petersen GB et al. (1979) Genetic studies of complement C4 in man.
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3. |
Brade V et al. (1977) Biosynthesis of pro-C3, a precursor of the third component of complement.
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4. |
Porter RR et al. (1978) The biochemistry of complement.
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5. |
O'Neill GJ et al. (1978) Chido and Rodgers blood groups: relationship to C4 and HLA.
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6. |
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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7. |
Hobart MJ et al. (1976) Allotypes of complement components in man.
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8. |
Krönke M et al. (1977) Linkage of guinea pig Bf and C4 TO THE GPLA.
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9. |
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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10. |
Lachmann PJ et al. (1975) Identification of Ss protein as murine C4.
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11. |
Curman B et al. (1975) H-2 linked Ss protein is C4 component of complement.
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12. |
Fasano MB et al. (1992) A unique recombination event resulting in a C4A*Q0,C4B*Q0 double null haplotype.
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13. |
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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14. |
Eikelenboom P et al. (1988) Complement C4 phenotypes in dementia of the Alzheimer type.
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15. |
Welch TR et al. (1985) C4 uremic variant: an acquired C4 allotype.
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16. |
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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17. |
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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18. |
Rosenfeld SI et al. (1969) Structural polymorphism of the fourth component of human complement.
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19. |
Wank R et al. (1984) Rare variant of complement C4 is seen in high frequency in patients with primary glomerulonephritis.
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20. |
Fontaine M et al. (1980) A common antigenic determinant on human C4b and C3b.
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21. |
Roos MH et al. (1982) A molecular basis for the two locus model of human complement component C4.
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22. |
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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23. |
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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24. |
Carroll MC et al. (1983) Cloning of a human complement component C4 gene.
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25. |
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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26. |
None (1984) A new genetic variant for Chido.
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27. |
Rittner C et al. (1981) On the significance of C2, C4, and factor B polymorphisms in disease.
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28. |
Pollack MS et al. (1980) HLA typing of cultured amniotic cells for the prenatal diagnosis of complement C4 deficiency.
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29. |
Lhotta K et al. (1996) Complement C4 phenotypes in patients with end-stage renal disease.
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30. |
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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31. |
Hall RE et al. (1978) Genetic defect in biosynthesis of the precursor form of the fourth component of complement.
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32. |
Olaisen B et al. (1979) Human complement C4 locus is duplicated on some chromosomes.
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33. |
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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34. |
O'Neill GJ et al. (1978) Two HLA-linked loci controlling the fourth component of human complement.
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35. |
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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36. |
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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37. |
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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38. |
Welch TR et al. (1990) Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.
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39. |
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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40. |
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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41. |
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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42. |
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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43. |
Prentice HL et al. (1986) C4B gene polymorphism detected in a human cosmid clone.
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44. |
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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45. |
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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46. |
Carroll MC et al. (1987) Polymorphism and molecular genetics of human C4.
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47. |
Awdeh ZL et al. (1980) Inherited structural polymorphism of the fourth component of human complement.
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48. |
Cream JJ et al. (1979) Genetic basis of acquired C4 deficiency.
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49. |
Cunningham-Rundles C et al. (1977) Chemical studies on the Chido antigen.
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50. |
Cunningham-Rundles C et al. (1977) Are HLA and Chido related antigenic groups?
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51. |
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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52. |
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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53. |
O'Neill GJ et al. (1978) Chido and Rodgers blood groups are distinct antigenic components of human complement C4.
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54. |
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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55. |
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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56. |
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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57. |
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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58. |
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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59. |
Barba G et al. (1993) Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression.
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60. |
Awdeh ZL et al. (1981) Genetic analysis of C4 deficiency.
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61. |
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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62. |
Orphanet article
Orphanet ID 160082
|
63. |
NCBI article
NCBI 721
|
64. |
OMIM.ORG article
Omim 120820
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Update: 14. August 2020