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Cystinuria: Genetic Heterogeneity and Allelism
Leon E. Rosenberg
New Series, Vol. 154, No. 3754 (Dec. 9, 1966), pp. 1341-1343
Published by: American Association for the Advancement of Science
Stable URL: http://www.jstor.org/stable/1720357
Page Count: 3
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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-II, 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.
Science © 1966 American Association for the Advancement of Science