title: Human complement component C8. Molecular basis of the beta-chain polymorphism.
abstract: 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.
authors.affiliation: Institute of Human Genetics, University of Bonn, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Dewald
authors.forename: S
authors.initials: S
authors.lastname: Hemmer
authors.forename: M M
authors.initials: MM
authors.lastname: Nöthen
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003185:Complement C8 / Q000737:chemistry / Q000235:genetics*; D018076:DNA, Complementary; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007525:Isoelectric Focusing; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D003185:Complement C8; D018076:DNA, Complementary