Abstract：
: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.
journal_name
Urolithiasisjournal_title
Urolithiasisauthors
Koulivand L,Mohammadi M,Ezatpour B,Salehi R,Markazi S,Dashti S,Kheirollahi Mdoi
10.1007/s00240-015-0794-0subject
Has Abstractpub_date
2015-10-01 00:00:00pages
447-53issue
5eissn
2194-7228issn
2194-7236pii
10.1007/s00240-015-0794-0journal_volume
43pub_type
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