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 P. Estivill, Paolo Gasparini, Manuel Palacín, Virginia Nunes

Research output: Contribution to journalArticle

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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
Externally publishedYes

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Cystinuria
Fluorescence In Situ Hybridization
Genes
In Situ Hybridization
Chromosomes, Human, 21-22 and Y
Chromosome Banding
Yeast Artificial Chromosomes
Microsatellite Repeats
Genome
Databases
Amino Acids

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization. / Calonge, Maria Julia; Nadal, Marga; Calvano, Savino; Testar, Xavier; Zelante, Leopoldo; Zorzano, Antonio; Estivill, Xavier P.; Gasparini, Paolo; Palacín, Manuel; Nunes, Virginia.

In: Human Genetics, Vol. 95, No. 6, 06.1995, p. 633-636.

Research output: Contribution to journalArticle

Calonge, MJ, Nadal, M, Calvano, S, Testar, X, Zelante, L, Zorzano, A, Estivill, XP, 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, vol. 95, no. 6, pp. 633-636. https://doi.org/10.1007/BF00209478
Calonge, Maria Julia ; Nadal, Marga ; Calvano, Savino ; Testar, Xavier ; Zelante, Leopoldo ; Zorzano, Antonio ; Estivill, Xavier P. ; Gasparini, Paolo ; Palacín, Manuel ; Nunes, Virginia. / Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization. In: Human Genetics. 1995 ; Vol. 95, No. 6. pp. 633-636.
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