title: Human complement C81 (C8 A) polymorphism: detection and segregation of new variants.
abstract: In addition to the earlier detected C81(A) rare variants A1, A2 (now A3) and B1 (now B2), six new rare variants (C81 A2 new, A4, A5, A6, M1 and B1new) are described within the polymorphism of the eighth component of human complement (alpha-gamma chain subunit). Except for A3, all rare C81 A variants are only detected by isoelectric focusing, and not by SDS polyacrylamide gel electrophoresis (PAGE), in the alpha-gamma subunit. In one individual out of approximately 700 individuals studied, a reversed position of the common allele (B vs A) was observed by SDS PAGE and the isofocusing technique. The segregation of A1, A3 and A4 could be followed in putative father/child combinations.
authors.affiliation: Institut für Rechtsmedizin, Johannes Gutenberg-Universität, Mainz, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Rittner
authors.forename: B
authors.initials: B
authors.lastname: Stradmann-Bellinghausen
mesh_terms: D000483:Alleles; D003185:Complement C8 / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D007525:Isoelectric Focusing; D011110:Polymorphism, Genetic
chemical_list: D003185:Complement C8