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C3
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Complement component 3

Scientific background:

Summary: The gene C3 encodes a crucial complement component. Loss-of-function mutations result in autosomal recessive C3 deficiency whereas gain-of-function mutations have been observed in atypical HUS. Some polymorphisms have been associated with age-related macula degeneration.

Methodology:

 

clinical
test
Method Genomic sequencing of the entire coding region
Turn-around time 25 working days
Effort large
Specimen DNA
Quality assessment Internal quality control only
  All known and new missense, nonsense and splice mutations can be detected.

 

clinical
test
Method Carrier testing
Turn-around time 5 working days
Effort little
Specimen DNA
Quality assessment Internal quality control only
  The test is only specific about the mutation already known in this kindred.

Systematic link table: 

Hemolytic-Uremic Syndrome
ADAMTS13
C3
CFB
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
MCP
THBD

Literature: 

Maller JB et al. (2007) Variation in complement factor 3 is associated with risk of age-related macular degeneration.
Brown KM et al. (2006) Influence of donor C3 allotype on late renal-transplantation outcome.
Yates JR et al. (2007) Complement C3 variant and the risk of age-related macular degeneration.
Botto M et al. (1990) Molecular basis of polymorphisms of human complement component C3.
Fang CJ et al. (2008) Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome.
Loirat C et al. (2008) Complement and the atypical hemolytic uremic syndrome in children.
Nürnberger J et al. (2009) Eculizumab for atypical hemolytic-uremic syndrome.