Bisceglia L, Purroy J, Jiménez-Vidal M, d'Adamo A P, Rousaud F, Beccia E, Penza R, Rizzoni G, Gallucci M, Palacín M, Gasparini P, Nunes V, Zelante L
Servizio di Genetica Medica, IRCCS-Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo, Foggia, Italy.
Kidney Int. 2001 Apr;59(4):1250-6. doi: 10.1046/j.1523-1755.2001.0590041250.x.
Cystinuria is a heritable disorder of amino acid transport characterized by the defective transport of cystine and the dibasic amino acids through the brush border epithelial cells of the renal tubule and intestine tract. Three types of cystinuria (I, II, and III) have been described based on the urinary excretion of cystine and dibasic amino acids in obligate heterozygotes. The SLC3A1 gene coding for an amino acid transporter named rBAT is responsible for type I cystinuria, whereas the SLC7A9 gene coding for a subunit (b0,+AT) of rBAT is involved in determining non-type I (types II and III) cystinuria.
The SLC3A1 gene sequence was investigated in a sample of seven type I/type I, three type I/non-type I, six type I/untyped, and four untyped unrelated cystinuric patients by RNA single-strand conformation polymorphism (RNA-SSCP).
Eight new point mutations (S168X, 765+1G>T, 766-2A>G, R452Q, Y461X, S547W, L564F, and C673W) and seven previously reported mutations were detected. These new mutations increase the number of mutated alleles so far characterized in SLC3A1 to 62.
We have found SLC3A1 mutations in 0.739 of the type I chromosomes studied. The relatively high proportion of uncharacterized type I chromosomes suggests either that there may be mutations not yet found in SLC3A1 or that many of the assigned type I chromosomes in mixed type I/non-type I patients may have mutations in SLC7A9. If the hypothesis is excluded in the future, we believe that a third gene may be involved in cystinuria.
胱氨酸尿症是一种遗传性氨基酸转运障碍疾病，其特征是胱氨酸和二碱基氨基酸通过肾小管和肠道的刷状缘上皮细胞的转运存在缺陷。根据纯合子杂合子尿液中胱氨酸和二碱基氨基酸的排泄情况，已描述了三种类型的胱氨酸尿症（I型、II型和III型）。编码名为rBAT的氨基酸转运蛋白的SLC3A1基因与I型胱氨酸尿症有关，而编码rBAT亚基（b0，+AT）的SLC7A9基因则参与非I型（II型和III型）胱氨酸尿症的决定。
通过RNA单链构象多态性（RNA-SSCP）对7例I型/I型、3例I型/非I型、6例I型/未分型和4例未分型的无关胱氨酸尿症患者样本中的SLC3A1基因序列进行研究。
检测到8个新的点突变（S168X、765+1G>T、766-2A>G、R452Q、Y461X、S547W、L564F和C673W）以及7个先前报道的突变。这些新突变使迄今为止在SLC3A1中鉴定出的突变等位基因数量增加到62个。
我们在所研究的I型染色体中发现了0.739的SLC3A1突变。未鉴定的I型染色体比例相对较高，这表明要么SLC3A1中可能存在尚未发现的突变，要么在混合型I型/非I型患者中许多指定的I型染色体可能在SLC7A9中存在突变。如果未来排除该假设，我们认为可能有第三个基因参与胱氨酸尿症。
