Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization

Maria Julia Calonge, Marga Nadal, Savino Calvano, Xavier Testar, Leopoldo Zelante, Antonio Zorzano, Xavier Estivill, Paolo Gasparini, Manuel Palacín, Virginia Nunes

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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. Fluorescene in situ hybridization (FISH) either with Alu-polymerasechain-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.

Original languageEnglish
Pages (from-to)633-636
Number of pages4
JournalHuman Genetics
Volume95
Issue number6
DOIs
Publication statusPublished - Jun 1995

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ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Calonge, M. J., Nadal, M., Calvano, S., Testar, X., Zelante, L., Zorzano, A., Estivill, X., Gasparini, P., Palacín, M., & Nunes, V. (1995). Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization. Human Genetics, 95(6), 633-636. https://doi.org/10.1007/BF00209478