Genetic polymorphism of the second component of human complement (C2): presentation of a modified typing technique and data on C2 phenotype distribution, linkage genetics, and haplotype associations a Norwegian family material.
Proteins were separated by prolonged isoelectric focusing in polyacrylamide gels, whereupon C2 bands were detected by a specific hemolytic assay. This was performed by treating the gel with iodine to increase C2 activity, and then developing C2 bands with an agarose gel overlay containing sensitized sheep cells and diluted human serum as a complement source deficient in functional C2. The gene frequencies observed in a material of 122 unrelated adults were: C2(1): 0.97 and C2(2): 0.03. C2 linkage relations and C2 haplotype associations have been examined a family material. It is concluded that C2 is very closely linked to HLA loci.
D000328:Adult; D003175:Complement C2 / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005787:Gene Frequency; D005796:Genes; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D009664:Norway; D010641:Phenotype; D011110:Polymorphism, Genetic
D003175:Complement C2; D006680:HLA Antigens