PMID- 7789946
OWN - NLM
STAT- MEDLINE
DCOM- 19950726
LR  - 20220129
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 95
IP  - 6
DP  - 1995 Jun
TI  - Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 
      and D2S177 to 2p16 by fluorescence in situ hybridization.
PG  - 633-6
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. 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.
FAU - Calonge, M J
AU  - Calonge MJ
AD  - Departament de Bioquimica i Fisiologia, Facultat de Biologia, Universitat de 
      Barcelona, Spain.
FAU - Nadal, M
AU  - Nadal M
FAU - Calvano, S
AU  - Calvano S
FAU - Testar, X
AU  - Testar X
FAU - Zelante, L
AU  - Zelante L
FAU - Zorzano, A
AU  - Zorzano A
FAU - Estivill, X
AU  - Estivill X
FAU - Gasparini, P
AU  - Gasparini P
FAU - Palacin, M
AU  - Palacin M
FAU - Nunes, V
AU  - Nunes V
LA  - eng
GR  - E.0083/TI_/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Amino Acid Transport Systems, Basic)
RN  - 0 (Carrier Proteins)
RN  - 0 (Genetic Markers)
RN  - 0 (Membrane Glycoproteins)
RN  - 0 (SLC7A9 protein, human)
SB  - IM
MH  - *Amino Acid Transport Systems, Basic
MH  - Base Sequence
MH  - Biological Transport/genetics
MH  - Carrier Proteins/*genetics
MH  - Chromosome Mapping
MH  - Chromosomes, Artificial, Yeast
MH  - Chromosomes, Human, Pair 2/*genetics
MH  - Cystinuria/*genetics
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Membrane Glycoproteins/*genetics
MH  - Molecular Sequence Data
EDAT- 1995/06/01 00:00
MHDA- 1995/06/01 00:01
CRDT- 1995/06/01 00:00
PHST- 1995/06/01 00:00 [pubmed]
PHST- 1995/06/01 00:01 [medline]
PHST- 1995/06/01 00:00 [entrez]
AID - 10.1007/BF00209478 [doi]
PST - ppublish
SO  - Hum Genet. 1995 Jun;95(6):633-6. doi: 10.1007/BF00209478.