Title of article :
Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study
Author/Authors :
Markazi, Samaneh Department of Molecular Genetics - Faculty of Basic Sciences - Shahrekord Branch - Islamic Azad University, Sahrekord , Kheirollahi, Majid Department of Genetics and Molecular Biology - School of Medicine - Isfahan University of Medical Sciences , Doosti, Abbas Department of Molecular Genetics - Faculty of Basic Sciences - Shahrekord Branch - Islamic Azad University, Sahrekord , Mohammadi, Mehrdad Department of Urology - Urology and Kidney Transplantation Research Center - School of Medicine - Isfahan University of Medical Sciences, Isfahan
Abstract :
Background: Considering a few studies on the genetic basis of the cystinuria in the Middle East and the population‑specific distribution
of mutations in the SLC3A1, we tried to find genetic variants in three exons (1, 3, and 8) of SLC3A1. Materials and Methods: In this
study, exons 1, 3, and 8 of SLC3A1 gene of 25 unrelated cystinuria patients searched for genetic variations by polymerase chain reaction
and sequencing. Results: There were five different variations in our studied population. We found one mutation in the SLC3A1
gene including missense variant M467K and identified three polymorphisms: nonsynonymous variant G38G, c. 610 + 169C>T and
c. 610 + 147C>G within the SLC3A1 gene, and one new variant. Conclusion: Our results confirm that cystinuria is a heterogeneous
disorder at the molecular level and more studies are needed to identify the distribution and frequency of mutations causing cystinuria
in the Iranian population.
Keywords :
Aminoaciduria , cystinuria , rBAT , SLC3A1 , transport
Journal title :
Astroparticle Physics
