Pras E, Sood R, Raben N, Aksentijevich I, Chen X, Kastner D L
Department of Medicine C, Sheba Medical Center, Tel-Hashomer, 52621, Israel.
Genomics. 1996 Aug 15;36(1):163-7. doi: 10.1006/geno.1996.0437.
The SLC3A1 gene encodes a transport protein for cystine and the dibasic amino acids. Recently mutations in this gene have been shown to cause cystinuria. We report the genomic structure and organization of SLC3A1, which is composed of 10 exons and spans nearly 45 kb. Until now screening for mutations in SLC3A1 has been based on RT-PCR amplification of illegitimate mRNA transcripts from white blood cells. In this report we provide primers for amplification of exons from genomic DNA, thus simplifying the process of screening for SLC3A1 mutations in cystinuria.
SLC3A1基因编码一种胱氨酸和二碱基氨基酸的转运蛋白。最近已表明该基因中的突变会导致胱氨酸尿症。我们报告了SLC3A1的基因组结构和组织，它由10个外显子组成，跨度近45 kb。到目前为止，对SLC3A1突变的筛查一直基于从白细胞中非法mRNA转录本的RT-PCR扩增。在本报告中，我们提供了用于从基因组DNA扩增外显子的引物，从而简化了胱氨酸尿症中SLC3A1突变的筛查过程。
