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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.

G Dewald·C Rittner
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Abstract

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).

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AllelesChromosome MappingComplement C2Genetic LinkageHLA AntigensHaploidyHumansHydrogen-Ion ConcentrationIsoelectric FocusingPhenotypePolymorphism, GeneticRecombination, GeneticJournal Article

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G Dewald, C Rittner. 1979. 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.. https://doi.org/10.1111/j.1423-0410.1979.tb02268.x

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