Gitomer W L, Reed B Y, Ruml L A, Sakhaee K, Pak C Y
Center for Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center, Dallas 75235-8885, USA.
J Clin Endocrinol Metab. 1998 Oct;83(10):3688-94. doi: 10.1210/jcem.83.10.5220.
Cystinuria is an inherited transport disorder characterized by defective renal resorption of cystine and other dibasic amino acids. We have studied the occurrence of mutations in the SLC3A1 gene, which codes for a dibasic amino acid transporter-like protein, in 33 unrelated cystinurics. We found mutations in 34 of the 66 chromosomes studied. There were 14 different mutations in our study population, 8 of which had not been previously described. Of these new mutations, 4 were missense mutations: G1934C, C1259G, T1607G, and G1373A. The other 4 mutations consisted of a single base insertion mutation (2022 ins T), a single base deletion mutation (163 del C), a 23-base deletion mutation (del 782A-804A), and a complex mutation that consisted of a 36-base deletion (del C431-3 to T463) and a duplication insertion of 468 T to 474 A after nucleotide 474.
胱氨酸尿症是一种遗传性转运障碍疾病，其特征为肾脏对胱氨酸及其他二碱基氨基酸的重吸收存在缺陷。我们研究了33名无亲缘关系的胱氨酸尿症患者中，编码二碱基氨基酸转运体样蛋白的SLC3A1基因的突变情况。在所研究的66条染色体中，我们发现了34个突变。在我们的研究群体中有14种不同的突变，其中8种此前未曾被描述过。在这些新突变中，4种为错义突变：G1934C、C1259G、T1607G和G1373A。另外4种突变包括一个单碱基插入突变（2022 ins T）、一个单碱基缺失突变（163 del C）、一个23碱基缺失突变（del 782A - 804A），以及一个复杂突变，该复杂突变由一个36碱基缺失（del C431 - 3至T463）和核苷酸474之后468 T至474 A的重复插入组成。
