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Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria

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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.

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Acknowledgments

This research was supported by Isfahan University of medical sciences grant. Isfahan, Iran. This study could not have been completed without the assistance and support of the patients and their families, Dr. M.A Tabatabaeefar and Dr. Sharifeh Khosravi whose contributions are gratefully acknowledged.

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Authors and Affiliations

  1. Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable disease, Isfahan University of Medical Sciences, Isfahan, Iran

    Leila Koulivand, Rasoul Salehi, Sepideh Dashti & Majid Kheirollahi

  2. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, P.O.Box: 81746-73461, Isfahan, Iran

    Leila Koulivand, Rasoul Salehi, Sepideh Dashti & Majid Kheirollahi

  3. Urology and Kidney Transplantation Research Center and Urology Department, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

    Mehrdad Mohammadi

  4. Razi Herbal Medicines Research Center, Lorestan University of Medical Sciences, Khorramabad, Iran

    Behrouz Ezatpour

  5. Department of Genetics and Molecular Biology, School of Medicine, Shar-e Kord University of Medical Sciences, Shar-E Kord, Iran

    Samane Markazi

Authors
  1. Leila Koulivand
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  2. Mehrdad Mohammadi
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  3. Behrouz Ezatpour
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  4. Rasoul Salehi
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  7. Majid Kheirollahi
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Correspondence to Majid Kheirollahi.

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Koulivand, L., Mohammadi, M., Ezatpour, B. et al. Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria. Urolithiasis 43, 447–453 (2015). https://doi.org/10.1007/s00240-015-0794-0

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  • DOI: https://doi.org/10.1007/s00240-015-0794-0

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