title: C7*N is a hypomorphic allele of the human complement c7 M/N protein polymorphism.
abstract: Two complement C7 protein polymorphisms exist. One is determined by isoelectric focussing whereas the other is determined by the reaction pattern of a monoclonal C7-allospecific antibody in an ELISA assay. C7 concentrations quantitated by an ELISA based on polyclonal C7-specific IgG and data from functional haemolytic assays were compared with the allotypes of both C7 protein polymorphisms. Testing a randomly selected Japanese population revealed that not only C7*3 but also C7*N is a hypomorphic allele. However, no significant disease association of C7*N or C7*M was found in studies of hospitalized patients.
authors.affiliation: Molecular Immunopathology Unit, Medical Research Council Centre, Cambridge, UK.
authors.forename: R
authors.initials: R
authors.lastname: Würzner
authors.forename: K
authors.initials: K
authors.lastname: Tokunaga
authors.forename: R
authors.initials: R
authors.lastname: Nitze
authors.forename: O
authors.initials: O
authors.lastname: Götze
authors.forename: P J
authors.initials: PJ
authors.lastname: Lachmann
mesh_terms: D044466:Asian People / Q000235:genetics; D003184:Complement C7 / Q000235:genetics*; D004797:Enzyme-Linked Immunosorbent Assay; D006801:Humans; D007525:Isoelectric Focusing; D007564:Japan; D010641:Phenotype; D011110:Polymorphism, Genetic
chemical_list: D003184:Complement C7