Studies on the C2-deficiency gene in man.
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.
19 references, click to expand
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HL-A haplotype frequencies in Denmark and Norway.Tissue Antigens. 1971;1(4):184-95 PMID: 4116379
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Evidence for linkage between HL-A histocompatibility genes and those involved in the synthesis of the second component of complement.J Exp Med. 1974 Oct 1;140(4):1108-11 PMID: 4427089
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Genetic polymorphism of C4 in man and localisation of a structural C4 locus to the HLA gene complex of chromosome 6.Nature. 1976 Nov 18;264(5583):253-4 PMID: 1088823
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