A Genetic Aspect of Wilson's Disease in Japan

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Abstract
As sibling cases of the same family showed almost complete similarities in their clinical and pathological findings with uniform biochemical disturbances, it may safely be asserted that the disease is inherited in a single factor. The difference between the genetic ratio calculated from Haldane''s formula and the theoretical value, 0.25, proved statistically insignificant. Wilson''s disease is inherited in an autosomal single recessive pattern. Multiple factors (for example, 3 complicated factors) may be excluded. In Japan the gene frequency is estimated at 0.003 by applying the Dahl-berg''s formula. Thus, the expected incidences of patients and heterozygous carriers is about 3/100,000 and about 6/1,000 respectively. The extraordinarily high incidence of the disease in this country may be due to the strikingly high frequency of cousin marriages and diet.

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