Identification of novel cystinuria mutations and polymorphisms in SLC3AI and SLC7A9 genes: Absence of SLC7A10 gene mutations in cystinuric patients
Identification of novel cystinuria mutations and polymorphisms in SLC3AI and SLC7A9 genes: Absence of SLC7A10 gene mutations in cystinuric patients
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DOI：
10.1089/gte.2005.9.175
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发表时间：
2005-09-01
期刊：
影响因子：
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通讯作者：
Georgiou, I
中科院分区：
文献类型：
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作者：
Chatzikyriakidou, A;Sofikitis, N;Georgiou, I
胱氨酸尿症占人类肾结石的3%，总患病率为7000名新生儿中有1名。据报道，有两个基因解释了胱氨酸尿症的遗传基础，即SLC3A1和SLC7A9。最近，也有报道称SLC7A10基因可能参与了该病的遗传基础。在目前的研究中，我们在20名希腊胱氨酸尿症患者中发现了总共15个突变。其中SLC3A1：F266S、T351I、R456C和N516D有4个，SLC7A9：479-1G>；C、Y232C、D233E和1399+1G>；T有4个。此外，SLC3A1基因有2个多态，SLC7A9基因也有16个多态变异，其中235+18C>；A、604+10G>；A和604+24T>；C是新发现的。最后，在所有患者中均未发现SLC7A10基因突变。仅在SLC7A10基因中发现了新的634+8C>；G和先前报道的913-11C>；T多态。综上所述，SLC3A1和SLC7A9突变谱系是导致希腊患者出现胱氨酸尿症的遗传基础。
Cystinuria represents 3% of nephrolithiasis in humans with an overall prevalence of 1 in 7,000 neonates. Two genes have been reported to account for the genetic basis of cystinuria, the SLC3A1 and the SLC7A9. Recently, the possible involvement of the SLC7A10 gene in the genetic basis of the disorder was also reported. In the present study, we found a total of 15 mutations in 20 Greek cystinuric patients. Fight mutations are novel, 4 in the SLC3A1: F266S, T351I, R456C, and N516D, and 4 in the SLC7A9: 479-1G>C, Y232C, D233E, and 1399+1G>T. Furthermore, 2 polymorphisms were identified in the SLC3A1 gene and 16 polymorphic variants were also found in the SLC7A9 gene of which the 235+18C>A, 604+10G>A, and 604+24T>C are novel. Finally, no mutation was found in the SLC7A10 gene in all patients. Only, the novel 634+8C>G and the previously reported 913-11C>T polymorphisms were identified in the SLC7A10 gene. In conclusion, a spectrum of SLC3A1 and SLC7A9 mutations are responsible for the genetic basis of cystinuria in Greek patients.