Detection of Mutation in Exons 3 and 8 of SLC3A1 and Exons 4 and 10 of SLC7A9 Genes in Patients with Cystinuria in Iran

Document Type : Original Article(s)

Authors

1 MSc Student, Pediatrics Inherited Diseases Research Center AND Department of Genetics and Molecular Biology, School of Medicine AND Student Research Committee, Isfahan University of Medical Sciences, Isfahan, Iran

2 Assistant Professor, Department of Urology, School of Medicine AND Urology and Kidney Transplantation Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

3 Associate Professor, Pediatrics Inherited Diseases Research Center AND Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

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

5 Assistant Professor, Pediatrics Inherited Diseases Research Center AND Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

Abstract

Background: Cystinuria, one of the first diagnosed inborn errors of metabolism, recognized by hyperexcretion of cystine, lysine, ornithine and arginine into the urine. So far, two genes associated with cystinuria have been identified: SLC3A1 (2p16.3) that encodes the heavy subunit rBAT of the renal b<sup>0,+ transporter and SLC7A9 (19q13.1), which encodes the light subunit b<sup>0,+AT. Patients with type A cystinuria have two SLC3A1 mutations, whereas patients with type B have two SLC7A9 mutations and finally patients with type AB have one mutation in each gene. Considering the population-specific distribution of mutations in disease, limited studies on the genetic bases of the cystinuria have been done in Middle East. This research presents the results of mutation analysis on patients with cystinuria in Iran.Methods: Thirty unrelated patients with cystinuria operated to remove kidney stones were screened by urologist .The patients were analyzed for mutation using amplification refractory mutation system (ARMS) and polymerase chain reaction-Restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) methods.Findings: We found some variations including missense mutations, polymorphism and intron variant, but the most frequent mutations, M467T and also T216M and R333W, were not detected in our patients.Conclusion: Our research may confirm the ethnic distribution of mutations in cystinuria and this study can expand our concept of the genetic basis of cystinuria in Iranian patients. 

Keywords

References

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Journal of Isfahan Medical School
Volume 32, Issue 293 - Serial Number 293
May and June 2014
Pages 1073-1080

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History

  • Receive Date: 25 April 2014
  • Revise Date: 26 May 2024
  • Accept Date: 06 April 2022

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