Polymorphism of the second component of human complement (C2). Observation of the rare phenotype (C2 2 (= C2 B) and data on the localization of the C2 locus in the HLA region.
The polymorphism of the second component of human complement was studied by means of isoelectric focusing in polyacrylamide gels with subsequent complement-dependent lysis of sensitized sheep erythrocytes in an agarose overlay containing C2-deficient or normal human serum. In a material of 289 unrelated individuals the following gene frequencies were observed: C21=0.965 and C22=0.035. The rare phenotype C2 2 (=C2 B) could be seen once in a child of a C2 1--2 heterozygous mother. The investigation of the C2/HLA relationship revealed a very close linkage: Among 62 informative meiotic divisions one recombination between HLA-B and C2 was found (i.e. 1.61%); in addition, C2(2) was significantly associated with HLA-B15 and -Cw3. In a family with an HLA-B/D(DR) crossover C2 segregated together with HLA-D(DR). This supports the assumption of a C2 structural locus outside HLA-B, probably near HLA-D(DR).
D000483:Alleles; D002874:Chromosome Mapping; D003175:Complement C2 / Q000235:genetics*; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics*; D006238:Haploidy; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007525:Isoelectric Focusing; D010641:Phenotype; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic
D003175:Complement C2; D006680:HLA Antigens