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In his original monograph, Wilson described the disease which is now named for him as ".. . familial, in the sense that frequently more than one member of a family is affected with it, but.. . not hereditary" (1). Subsequent studies (2-4) have indicated, however, that the disease is hereditary and is transmitted in autosomal recessive fashion by parents who never develop the illness. This implies both that Wilson's disease appears in those subjects who are homozygous for the "Wil-son's disease gene" and that each parent of such a subject must be a heterozygote who possesses one of these abnormal genes and one of its normal alleles. We have chosen to designate the genotypes of patients, heterozygotes, and normal individuals , respectively, as cc, Cc, and CC. The patient in whom Wilson's disease is, or will be, clinically manifest exhibits four abnormalities of copper metabolism: 1) a persistent deficiency or absence of normal ceruloplasmins, the blue, plasma copper-proteins (3, 5, 6); 2) an increased concentration of loosely bound, non-ceru-loplasmin copper in serum (6, 7); 3) an increased copper content of many organs and tissues (6, 8-13); and 4) an increased excretion of copper in believe that the first two of these derangements lead to the third, the pathological effects of which constitute Wilson's disease. The symptoms and physical signs of Wilson's disease never develop in the heterozygotes, and it is even unusual for them to manifest any of these four abnormalities. Considering these respectively , we find that 1) of 49 parents 1 of patients in whom serum ceruloplasmin concentrations were measured, directly or indirectly, only 10 showed a decreased concentration 'of this protein; 2) of 4 parents in whom appropriate observations were made, only 1 showed an increased concentration of loosely bound, non-ceruloplasmin copper in serum (7); 3) there is no information concerning concentrations of tissue copper in parents of patients ; and 4) parents have never been shown to exhibit hypercupriuria (17, 19). Classical Mendelian concepts are not compatible with phenotypic manifestations of one reces-sive gene. However, recent reports indicate that the heterozygous carriers of some other recessive genes can be identified biochemically (22). Quantitative or qualitative changes, or both, in the protein whose synthesis the abnormal gene is assumed to govern may be demonstrable, as is true, for example, in individuals with sickle trait (23). Or there may be abnormal metabolism of elements or compounds, the usual …

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