Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization
| Autor: | Paolo Gasparini, Savino Calvano, Marga Nadal, Antonio Zorzano, Virginia Nunes, Maria Julia Calonge, Manuel Palacín, Xavier Testar, Xavier Estivill, Leopoldo Zelante |
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| Rok vydání: | 1996 |
| Předmět: |
Genetic Markers
Yeast artificial chromosome Molecular Sequence Data Locus (genetics) Biology Genome Gene mapping Genetics medicine Humans Chromosomes Artificial Yeast Gene In Situ Hybridization Fluorescence Genetics (clinical) Cystinuria Membrane Glycoproteins Base Sequence medicine.diagnostic_test business.industry Chromosome Mapping Chromosome Biological Transport medicine.disease Genetic marker Nephrology Chromosomes Human Pair 2 Pediatrics Perinatology and Child Health Amino Acid Transport Systems Basic Microsatellite Carrier Proteins business Fluorescence in situ hybridization |
| Zdroj: | Pediatric Nephrology. 10:170-170 |
| ISSN: | 1432-198X 0931-041X |
| DOI: | 10.1007/bf00862064 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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