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Localization of a gene causing cystinuria to chromosome 2p

Nature Genetics volume 6, pages 415–419 (1994)Cite this article

Abstract

Cystinuria is an autosomal recessive disorder of amino acid transport. It is a common hereditary cause of kidney stones worldwide, and is associated with significant morbidity. In 17 affected families, we found linkage between cystinuria and three chromosome 2p markers. Maximal two–point lod scores between cystinuria and D2S119, D2S391 and D2S288 were 8.23 (θ=0.07), 3.73 (θ=0.15) and 3.03 (θ=0.12), respectively. Analysis of recombinants and multipoint linkage data indicated that the most likely order is cen–D2S391–D2S119–cystinuria–D2S177–tel. We also observed high rates of homozygosity for markers in this chromosomal region among 11 affected offspring of consanguineous marriages. Based on its map position and function, the recently cloned SLC3A1 amino acid transporter gene is a primary candidate gene for this disease.

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Authors and Affiliations

  1. Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, 20892, USA

    Elon Pras, Ivona Aksentijevich, Leandrea Prosen & Daniel L. Kastner

  2. Department of Medicine D Beilinson Medical Center, Petah Tiqva, Israel

    Nadir Arber & Jonathan M. Schapiro

  3. Department of Metabolism Beilinson Medical Center, Petah Tiqva, Israel

    Uri Liberman

  4. Department of Clinical Laboratories Beilinson Medical Center, Petah Tiqva, Israel

    Daniela Harel

  5. Department of Urology, Hadassah Medical Center, Jerusalem, Israel

    Giora Katz

  6. Department of Medicine F, Sheba Medical Center, Tel-Hashomer, 52621, Israel

    Luis Gruberg & Mordechai Pras

  7. Department of Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, 52621, Israel

    Mordechai Pras

  8. Unite de Génétiaue Moleculaire Humaine, CNRS URA1445, Institut Pasteur, 25 rue du Docteur Roux, 75724, Paris Cedex, 15, France

    Jean Weissenbach

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  1. Elon Pras
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Pras, E., Arber, N., Aksentijevich, I. et al. Localization of a gene causing cystinuria to chromosome 2p. Nat Genet 6, 415–419 (1994). https://doi.org/10.1038/ng0494-415

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