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Genetic studies of complement C4 in man

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Summary

A C4 variant found in about 5% of the population is described. The fast-moving part of this variant is governed by an allele (F x) codominant to F. The F x allele is in very strong linkage disequilibrium with HLA-B17 as the linkage disequilibrium parameter accounted for nearly 100% of the haplotype frequency of B17, F x. The strong association is also evidenced by the study of 11 families segregating for the F x allele. There was no instance of recombination between C4 and HLA in 36 informative meioses.

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Petersen, G.B., Sørensen, I.J., Buskjær, L. et al. Genetic studies of complement C4 in man. Hum Genet 53, 31–36 (1979). https://doi.org/10.1007/BF00289447

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