Paper Information

Journal:   JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S)   2ND WEEK SEPTEMBER 2014 , Volume 32 , Number 293; Page(s) 1 To 8.
 
Paper: 

DETECTION OF MUTATION IN EXONS 3 AND 8 OF SLC3A1 AND EXONS 4 AND 10 OF SLC7A9 GENES IN PATIENTS AFFECTED BY CYSTINURIA IN IRAN

 
 
Author(s):  KOULIVAND LEILA, MOHAMMADI MEHRDAD, SALEHI RASOUL, EZATPOUR BEHROUZ, KHEIROLLAHI MAJID*
 
* 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 inborn errors of metabolism, is recognized by hyperexcretion of cystine, lysine, ornithine arginine and into urine. So far, two genes associated with cystinuria have been identified: SLC3A1 (2p16.3) that encodes the heavy subunit rBAT of the renal b0,+ transporter and SLC7A9 (19q13.1), which encodes the light subunit b0,+AT. Patients with type A cystinuria have two SLC3A1 mutations, whereas patients with type B cystinuria 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 cystinuria patients operated to remove kidney stones were screened by urologyst .The patients were analyzed for mutation using ARMS-PCR and 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 hopefully this study will expand our concept of the genetic basis of cystinuria in Iranian patients.

 
Keyword(s): CYSTINURIA, MUTATION, IRAN
 
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