title: Localization of a gene causing cystinuria to chromosome 2p.
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 (theta = 0.07), 3.73 (theta = 0.15) and 3.03 (theta = 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.
authors.affiliation: Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland 20892.
authors.forename: E
authors.initials: E
authors.lastname: Pras
authors.forename: N
authors.initials: N
authors.lastname: Arber
authors.forename: I
authors.initials: I
authors.lastname: Aksentijevich
authors.forename: G
authors.initials: G
authors.lastname: Katz
authors.forename: J M
authors.initials: JM
authors.lastname: Schapiro
authors.forename: L
authors.initials: L
authors.lastname: Prosen
authors.forename: L
authors.initials: L
authors.lastname: Gruberg
authors.forename: D
authors.initials: D
authors.lastname: Harel
authors.forename: U
authors.initials: U
authors.lastname: Liberman
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
mesh_terms: D026923:Amino Acid Transport Systems, Basic; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003241:Consanguinity; D003553:Cystine / Q000378:metabolism; D003555:Cystinuria / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006239:Haplotypes; D006801:Humans; D007557:Israel; D008126:Lod Score; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D011995:Recombination, Genetic; D013045:Species Specificity; D014481:United States
chemical_list: D026923:Amino Acid Transport Systems, Basic; D002352:Carrier Proteins; D008562:Membrane Glycoproteins; C499489:SLC7A9 protein, human; D003553:Cystine