title: Genetic studies of low-abundance human plasma proteins. IX. A new allele at the complement subcomponent C1R structural locus.
abstract: Genetic variation in the C1R subcomponent of the first complement component C1 was investigated in U.S. whites by isoelectric focusing and immunoblotting. In addition to the previously described two alleles, the products of a new and rare third allele designated C1R*3 were detected. The expression of the new allele is consistent with autosomal codominant inheritance, which is confirmed by family data. The frequencies of the C1R*1, C1R*2 and C1R*3 alleles in 201 randomly selected U.S. whites are: 0.908, 0.090, and 0.002, respectively.
authors.affiliation: Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, PA 15261.
authors.forename: M I
authors.initials: MI
authors.lastname: Kamboh
authors.forename: L
authors.initials: L
authors.lastname: Lyons
authors.forename: R E
authors.initials: RE
authors.lastname: Ferrell
mesh_terms: D000483:Alleles; D003172:Complement C1 / Q000235:genetics*; D005796:Genes; D006801:Humans; D010641:Phenotype
chemical_list: D003172:Complement C1