Cystinuria: Genetic Heterogeneity and Allelism

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Science  09 Dec 1966:
Vol. 154, Issue 3754, pp. 1341-1343
DOI: 10.1126/science.154.3754.1341


Studies of four stoneforming cystinuric subjects from three unrelated pedigrees indicated that each was heterozygous for two of the three described mutant genes producing cystinuria ( I, II, III). Their genotypes were I-II, II-III, I-III, and I-III, respectively. These doubly heterozygous patients were phenotypically indistinguishable from cystinuric homozygotes of genotype I-I, II-I, or III-III. The data provide the first direct evidence that all of the known mutations responsible for the genetic heterogeneity in cystinuria are allelic.