Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Botto M et al. (1990) Molecular basis of polymorphisms of human complement component C3. 
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| 2. |
Nürnberger J et al. (2009) Eculizumab for atypical hemolytic-uremic syndrome.
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| 3. |
Brown KM et al. (2006) Influence of donor C3 allotype on late renal-transplantation outcome.
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| 4. |
Yates JR et al. (2007) Complement C3 variant and the risk of age-related macular degeneration.
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| 5. |
Maller JB et al. (2007) Variation in complement factor 3 is associated with risk of age-related macular degeneration.
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| 6. |
Fang CJ et al. (2008) Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome.
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| 7. |
Loirat C et al. (2008) Complement and the atypical hemolytic uremic syndrome in children.
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| 8. |
Orphanet article Orphanet ID 160064
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| 9. |
NCBI article NCBI 718
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| 10. |
OMIM.ORG article Omim 120700
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| 11. |
Wikipedia article Wikipedia EN (Complement_component_3)
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