Calonge M J, Nadal M, Calvano S, Testar X, Zelante L, Zorzano A, Estivill X, Gasparini P, Palacín M, Nunes V
Departament de Bioquímica i Fisiologia, Facultat de Biologia, Universitat de Barcelona, Spain.
Hum Genet. 1995 Jun;95(6):633-6. doi: 10.1007/BF00209478.
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.
我们已确定rBAT（在基因组数据库中命名为SLC3A1）是一种导致胱氨酸尿症的基因，胱氨酸尿症是一种遗传性氨基酸转运障碍疾病。通过微卫星标记D2S119和D2S177之间的连锁分析，已对胱氨酸尿症基因座进行了定位。利用含rBAT基因的酵母人工染色体（YAC）的Alu聚合酶链反应（PCR）扩增序列或rBAT特异性PCR扩增基因组片段进行荧光原位杂交（FISH），并结合染色体G显带技术，已将rBAT细胞遗传学定位到2p16.3。为了将胱氨酸尿症的物理信息和遗传信息关联起来，我们用含rBAT或D2S119和D2S177基因座的YAC的Alu-PCR扩增序列组合进行了FISH。在所有情况下，都获得了融合信号，这表明它们在物理位置上紧密相邻；这使得rBAT、胱氨酸尿症及其连锁标记D2S119和D2S177被定位到2p16。
