title: Studies on the C2-deficiency gene in man.
abstract: A one-step haemolytic assay using cellular intermediates was used to determine C2 levels in 50 HLA-A25 and B18 positive blood donors and four families suspected to have the C2-deficiency gene. The method clearly discriminated between homozygous normals and heterozygous deficient individuals, and it was found that approx. 50% of individuals with the haplotype HLA-A25, B18 had low levels of functional C2. In the four families studied, the close linkage of the C2-deficiency gene and the haplotype HLA-A25, B18 was confirmed. Furthermore, the C2-deficiency gene was shown to be a silent or null allele at the structural locus.
mesh_terms: D002648:Child; D003175:Complement C2 / Q000172:deficiency*; D005260:Female; D005787:Gene Frequency; D005796:Genes; D006680:HLA Antigens / Q000032:analysis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype
chemical_list: D003175:Complement C2; D006680:HLA Antigens