Cystinuria: genetic heterogeneity and allelism.
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.
D000328:Adult; D001120:Arginine / Q000652:urine*; D003555:Cystinuria / Q000235:genetics*; D005260:Female; D005796:Genes; D006801:Humans; D066298:In Vitro Techniques; D007413:Intestinal Mucosa / Q000378:metabolism*; D008239:Lysine / Q000652:urine*; D008297:Male; D009154:Mutation; D009952:Ornithine / Q000652:urine*
D001120:Arginine; D009952:Ornithine; D008239:Lysine