Summary
In the course of a paternity investigation an apparent mother-child incompatibility was observed in the Gc system. An extensive family study was undertaken to test the hypothesis of a silent gene or null allele responsible for the contrary phenotypes: the mother had the type Gc2, the son was Gc1. The apparent incompatibility was due to a “pseudo” silent allele, called Gc*1 Θ, which controlled a group-specific component with extremely reduced serum concentrations. This double-band mutant could be differentiated from the Gc 1S bands by two-dimensional electrophoresis: isoelectric focusing (IEF)/6M urea IEF. The allele Gc*1 Θ was found in 12 persons from this family; it was not associated with any apparent disease state. Also present in this family was the variant Gc1C1. Pedigree analysis revealed a possible (not significant) distorted segregation ratio for the allele Gc*1C1, which was found in 22 of 33 offspring from marriages with one parent heterozygous for Gc*1C1.
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Vavrusa, B., Cleve, H. & Constans, J. A deficiency mutant of the Gc system. Hum Genet 65, 102–107 (1983). https://doi.org/10.1007/BF00286643
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DOI: https://doi.org/10.1007/BF00286643