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 language | English |
|---|---|
| Pages (from-to) | 633-636 |
| Number of pages | 4 |
| Journal | Human Genetics |
| Volume | 95 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Jun 1995 |
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ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
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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; Gasparini, Paolo; Palacín, Manuel; Nunes, Virginia.
In: Human Genetics, Vol. 95, No. 6, 06.1995, p. 633-636.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization
AU - Calonge, Maria Julia
AU - Nadal, Marga
AU - Calvano, Savino
AU - Testar, Xavier
AU - Zelante, Leopoldo
AU - Zorzano, Antonio
AU - Estivill, Xavier
AU - Gasparini, Paolo
AU - Palacín, Manuel
AU - Nunes, Virginia
PY - 1995/6
Y1 - 1995/6
N2 - 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.
AB - 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.
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U2 - 10.1007/BF00209478
DO - 10.1007/BF00209478
M3 - Article
VL - 95
SP - 633
EP - 636
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 6
ER -