Publication | Open Access
Human complement component C8
11
Citations
28
References
1994
Year
Complement SystemOrgan PhysiologyAllelic VariantGeneticsImmunologyGenetic EpidemiologyMolecular BiologyHuman PolymorphismImmune-related Gene PolymorphismAutoimmunityMolecular GeneticsGenetic VariationSequence PolymorphismGenomicsC8 Beta ChainMedicineC8b GeneGenetic Basis
The beta-chain of human complement component C8 exhibits a structural genetic polymorphism: using isoelectric focusing two major allotypes can be identified (C8B B ('basic') and C8B A ('acidic')). In the present report we describe a sequence polymorphism of the C8B gene (codon 63: AGA-->GGA) and demonstrate that the resulting amino acid substitution (Arg-->Gly) consistently differentiates between the two common charge variants of the C8 beta chain; the C8B B allotype is characterized by an Arg and the C8B A allotype by a Gly residue in position 63 of the C8 beta polypeptide chain.
| Year | Citations | |
|---|---|---|
Page 1
Page 1