Genetic studies of low-abundance human plasma proteins. VII. Heterogeneity of the C1S subcomponent of the first complement component.
Charge-based structural variation has been observed in the C1s subcomponent of the first complement component C1 after isoelectric focusing and immunoblotting. One common and two uncommon autosomal co-dominantly expressed alleles, designated C1S*1, C1S*2 and C1S*3, have been recognized at the C1S structural locus. The frequency of these alleles was 0.979, 0.016 and 0.005, respectively, in a U.S. white population. No variation at the C1S locus was observed in a U.S. black sample (n = 95).
Kamboh
M I
MI
Department of Biostatistics, Graduate School of Public Health, University of Pittsburg, PA 15261.
Ferrell
R E
RE
D000483:Alleles; D002874:Chromosome Mapping; D003166:Complement Activating Enzymes / Q000235:genetics*; D003173:Complement C1s / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D007158:Immunologic Techniques; D007525:Isoelectric Focusing; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic
D003166:Complement Activating Enzymes; D003173:Complement C1s