title: Deficiency of the eighth component of complement. Evidence for linkage of C8 alpha-gamma pattern with C8 beta deficiency in sera of twelve patients.
abstract: The C8 alpha-gamma subunit of the eighth component of complement was analysed by sodium dodecyl sulphate-polyacrylamide gel electrophoresis and immunoblotting in sera from 68 normal individuals, 12 C8 beta-deficient patients (from seven unrelated families), and 10 of the parents of the latter. Three different forms of the C8 alpha-gamma subunit were observed: 34/68 normal individuals were found to have a C8 alpha-gamma triple band (termed C8 alpha-gamma 1, C8 alpha-gamma 2, C8 alpha-gamma 3 variants), 23/68 the C8 alpha-gamma 2 and C8 alpha-gamma 3 variants, and 11/68 the C8 alpha-gamma 1 and C8 alpha-gamma 3 variants. In contrast, all C8 beta-deficient patients had detectable C8 alpha-gamma 2 and C8 alpha-gamma 3 variants but lacked the C8 alpha-gamma 1 variant in addition to the C8 beta subunit. Three out of ten parents of the C8 beta-deficient patients were found to have the C8 alpha-gamma triple band, whereas 7/10, like their children, had the C8 alpha-gamma 2 and C8 alpha-gamma 3 variants only. We conclude that there is a linkage between the C8 alpha-gamma pattern and C8 beta deficiency. These data may support earlier findings that in humans the genes encoding for C8 alpha-gamma and C8 beta are closely linked on chromosome 1.
authors.affiliation: Department of Paediatrics, University of Düsseldorf, FRG.
authors.forename: W
authors.initials: W
authors.lastname: Nürnberger
authors.forename: H
authors.initials: H
authors.lastname: Pietsch
authors.forename: R
authors.initials: R
authors.lastname: Willers
authors.forename: T
authors.initials: T
authors.lastname: Bufon
authors.forename: G M
authors.initials: GM
authors.lastname: Hänsch
authors.forename: R
authors.initials: R
authors.lastname: Seger
authors.forename: V
authors.initials: V
authors.lastname: Rodriguez-Valverde
authors.forename: H
authors.initials: H
authors.lastname: Schroten
authors.forename: C
authors.initials: C
authors.lastname: Hershko
authors.forename: F
authors.initials: F
authors.lastname: Tedesco
mesh_terms: D000328:Adult; D003185:Complement C8 / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006801:Humans; D015151:Immunoblotting; D007158:Immunologic Techniques; D008297:Male; D011110:Polymorphism, Genetic
chemical_list: D003185:Complement C8