Frequency of Heterozygotes for Hereditary Galactosaemia in a Normal Population

Abstract

Of 542 normal individuals, 13 had concentrations of galactose-1-phosphate-uridyl transferase within the heterozygous range. In 11 of these persons the supposition of the heterozygous state was confirmed by family investigations. The heterozygote frequency was calculated at 1 : 50 and the frequency of abnormal homozygotes (patients with hereditary galactosemia) as 1:10 000 live births. A number of as yet unclarified genetic problems which might influence this calculation are discussed.