Wilson病の遺伝学的研究—II．遺伝型式，地理的布分，遺伝子頻度

GENETICAL STUDIES ON WILSON'S DISEASE:II. MODE OF INHERITANCE, GEOGRAPHICAL DISTRIBUTION AND GENE FREQUENCY

I．はじめに

　Wilson病は，血清ceruloplasminおよび尿中銅排泄量の測定，Kayser-Fleischer角膜輪，組織への銅の過剰沈着などを確認することにより適確に診断をくだすことができる^{1）2）10）}。従来本症の遺伝学的研究は数多くなされてきたが，かかる生化学的検索に基づいて，家族における病者と健康者を厳密に区別して遺伝学的集計を行なうことが可能となつたのは近年のことである。著者らは過去数年にわたり，小児のWilson病患児とその家族について臨床的ならびに生化学的に検討を行なつてきた。現在までに遺伝学的研究を行なうに満足すべき資料が得られたと思われる家系は20家系に達したので，その資料に基づき本症の遺伝型式の吟味を行なつたところを報告する。

Genetical analysis was performed for 20 families with Wilson's disease of childhood.

By applying both Haldane s formula and the formula for "single ascertainment" it was con-cluded that the mode of inheritance in Wil-son's disease of childhood is very probably autosomal single recessive as of adult. an epidemiological investigation revealed that the patients and the heterozygotes of the disease were distributed all over Japan. By applying Dahlberg's formula, gene frequency and the incidence of the patients in Japan is estimated at 0.0033 to and 1.9 to 6.8×10^-5 respectively of 80 patients, who have been reported since 1955 in the Japanese literature 56 had developed the hepatic or neurological symptoms under the age of 15 years. The true cause for the earlier onset of the disease in Japanese patients is not known, although it is probable that some genetical and envir-onmental factors, such as high copper content of the diets, play a role.