XIII.—The Genetic Basis of Alkaptonuria

Abstract

Summary1. The overwhelming majority of cases of alkaptonuria are consistent with the hypothesis that this disease is determined by a single autosomal recessive gene substitution.2. The observed proportion of alkaptonurics in recorded fraternities with two normal parents and the incidence of consanguineous parentage conform quantitatively to the requirements of Mendelian hypothesis in a system of random mating.3. There appears to be an alternative form of alkaptonuria which is dominant.Grateful acknowledgment is made to Sir Archibald Garrod for advice regarding the sources consulted.