title: Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.
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.
authors.affiliation: Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable disease, Isfahan University of Medical Sciences, Isfahan, Iran. koulivand.leila@gmail.com.|Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, P.O.Box: 81746-73461, Isfahan, Iran. koulivand.leila@gmail.com.
authors.forename: Leila
authors.initials: L
authors.lastname: Koulivand
authors.affiliation: Urology and Kidney Transplantation Research Center and Urology Department, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. m_mohammadi@med.mui.ac.ir.
authors.forename: Mehrdad
authors.initials: M
authors.lastname: Mohammadi
authors.affiliation: Razi Herbal Medicines Research Center, Lorestan University of Medical Sciences, Khorramabad, Iran. bezatpour@gmail.com.
authors.forename: Behrouz
authors.initials: B
authors.lastname: Ezatpour
authors.affiliation: Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable disease, Isfahan University of Medical Sciences, Isfahan, Iran. r_salehi@med.mui.ac.ir.|Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, P.O.Box: 81746-73461, Isfahan, Iran. r_salehi@med.mui.ac.ir.
authors.forename: Rasoul
authors.initials: R
authors.lastname: Salehi
authors.affiliation: Department of Genetics and Molecular Biology, School of Medicine, Shar-e Kord University of Medical Sciences, Shar-E Kord, Iran. smn_mrkz@yahoo.com.
authors.forename: Samane
authors.initials: S
authors.lastname: Markazi
authors.affiliation: Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable disease, Isfahan University of Medical Sciences, Isfahan, Iran. sdashti88@yahoo.com.|Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, P.O.Box: 81746-73461, Isfahan, Iran. sdashti88@yahoo.com.
authors.forename: Sepideh
authors.initials: S
authors.lastname: Dashti
authors.affiliation: Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable disease, Isfahan University of Medical Sciences, Isfahan, Iran. mkheirollahi@med.mui.ac.ir.|Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, P.O.Box: 81746-73461, Isfahan, Iran. mkheirollahi@med.mui.ac.ir.
authors.forename: Majid
authors.initials: M
authors.lastname: Kheirollahi
mesh_terms: D026923:Amino Acid Transport Systems, Basic / Q000235:genetics*; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D003555:Cystinuria / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007492:Iran; D008297:Male
chemical_list: D026923:Amino Acid Transport Systems, Basic; D026921:Amino Acid Transport Systems, Neutral; C489857:SLC3A1 protein, human; C499489:SLC7A9 protein, human
keywords: Cystinuria; Iran; Mutation; SLC3A1; SLC7A9