A new hereditary single band variant of the Gc system.
A new single band variant (Gc Ar) or the Gc subtypes not identical with the known Gc variants has been detected in the plasma of a healthy blood donor by isoelectric focusing. Using this technique the variant is represented by a single band which has a similar isoelectric point to the Gc 1C2 anodal band. It is well known that the single band Gc phenotypes remain unaltered after neuraminidase treatment. Nevertheless, the new single band variant (Gc Ar) is altered after neuraminidase treatment as is Gc 2A3. After neuraminidase treatment, the Gc Ar band is affected and moved to the nearby position of the Gc 2 band. Investigation of the proband's family shows that the variant occurs combined with the common alleles Gc 1F, Gc 1S and that it has an autosomal dominant inheritance.
D000483:Alleles; D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation / Q000187:drug effects; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D009439:Neuraminidase / Q000494:pharmacology; D010375:Pedigree; D010641:Phenotype; D014809:Vitamin D-Binding Protein / Q000235:genetics*
D014809:Vitamin D-Binding Protein; D009439:Neuraminidase