A Genetic Aspect of Wilson's Disease in Japan

Abstract

As sibling cases of one and 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. As for the genetic ratio, the difference between the value calculated from the Haldane's formula and the theoretical value 0.25 proved statistically insignificant. So Wilson's disease is inherited in an autosomal single recessive pattern. Multiple factors, for example, three complicated factors may be excluded.
In our country the gene frequency is estimated at 0.003 by applying the Dahlberg's formula, so the expected incidences of patients and heterozygous carriers are about three in a hundred thousand and about six in a thousand, respectively. The extraordinarily high incidence of the disease in our country may be due to the strikingly high frequency of cousin marriages and our diet.