title: Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization.
abstract: We have established rBAT (named as SLC3A1 in the Genome Data Base) as a gene responsible for cystinuria, a heritable disorder of amino acid transport. The cystinuria locus has been mapped by linkage between microsatellite markers D2S119 and D2S177. Fluorescence in situ hybridization (FISH) either with Alu-polymerase-chain-reaction (PCR)-amplified sequences of a yeast artificial chromosome (YAC) containing the rBAT gene or with rBAT-specific PCR-amplified genomic fragments, and chromosome G-banding have cytogenetically mapped rBAT to 2p16.3. In order to correlate the physical and genetic information on cystinuria, we have performed FISH with combinations of Alu-PCR-amplified sequences from YACs containing rBAT or the D2S119 and D2S177 loci. In all cases, a fused signal is obtained that demonstrates their close physical location; this allows the assignment of rBAT, cystinuria and their linked markers, D2S119 and D2S177, to 2p16.
authors.affiliation: Departament de Bioquímica i Fisiologia, Facultat de Biologia, Universitat de Barcelona, Spain.
authors.forename: M J
authors.initials: MJ
authors.lastname: Calonge
authors.forename: M
authors.initials: M
authors.lastname: Nadal
authors.forename: S
authors.initials: S
authors.lastname: Calvano
authors.forename: X
authors.initials: X
authors.lastname: Testar
authors.forename: L
authors.initials: L
authors.lastname: Zelante
authors.forename: A
authors.initials: A
authors.lastname: Zorzano
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
authors.forename: M
authors.initials: M
authors.lastname: Palacín
authors.forename: V
authors.initials: V
authors.lastname: Nunes
mesh_terms: D026923:Amino Acid Transport Systems, Basic; D001483:Base Sequence; D001692:Biological Transport / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003555:Cystinuria / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data
chemical_list: D026923:Amino Acid Transport Systems, Basic; D002352:Carrier Proteins; D005819:Genetic Markers; D008562:Membrane Glycoproteins; C499489:SLC7A9 protein, human