DETECTION OF THE HETEROZYGOUS CARRIER OF THE WILSON'S DISEASE GENE*

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Abstract
Wilson''s disease develops in subjects who inherit two abnormal genes and whose genotype may be designated as cc. These individuals, even while asymptomatic, can be differentiated from subjects who are homozygously normal (CC) for this gene. The former manifest both a deficiency of the plasma copper-protein, ceruloplasmin, and an excess of non-ceruloplasmin copper in tissues and body fluids Measurement of the incorporation of orally administered cupric64 acetate into ceruloplasmin appears to provide a means of detecting heterozygotes, Cc, for "Wilson''s disease gene." The results of applying a standardized test of this kind to groups of the 3 genotypes indicate that differentiation of the heterozygotes from homozygously normal individuals can be fairly reliably made.