Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria

Koulivand, Leila and Mohammadi, Mehrdad and Ezatpour, Behrouz and Salehi, Rasoul and Markaz, Samane and Dashti, Sepideh and Kheirollahi, Majid (2015) Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria. Urolithiasis. pp. 447-453.


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Cystinuria is an autosomal inherited disorder of renal reabsorption of cystine, arginine, lysine, and ornithine. Increased urinary excretion of cystine results in the formation of kidney stones. Considering the few studies on the genetic basis of the cystinuria in the Middle East and the population-specific distribution of mutations in the SLC3A1 and SLC7A9 genes, in the present study, mutation analysis of these two genes was performed in a cohort of Iranian patients with cystinuria. Thirty unrelated cystinuria patients were analyzed for four of the most common mutations using ARMS-PCR (M467T, T216M) and RFLP-PCR (G105R, R333W) methods. For negative sample, two exons of both genes, which harbor many mutations, were subject to DNA sequencing. Eight variants were identified including missense, polymorphism, intron variant, and a novel variant. The most frequent mutations were not detected in our patients and only G105R was found. Since the molecular genetic testing results may influence the therapy and prognosis of cystinuria, this paper contributes to understanding of the molecular basis of cystinuria in the Iranian patients. Keywords Mutation · SLC3A1 · SLC7A9 · Cystinuria · Iran

Item Type: Article
Subjects: R Medicine > R Medicine (General)
Depositing User: samira sepahvandy
Date Deposited: 24 Sep 2016 06:11
Last Modified: 23 Oct 2017 11:55

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